Human genetic variation database, a reference database of genetic variations in the Japanese population.
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Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndromeBiallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline MyopathyRoutine genetic testing of lung cancer specimens derived from surgery, bronchoscopy and fluid aspiration by next generation sequencing.Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population.A Putative Association of a Single Nucleotide Polymorphism in GPR126 with Aggressive Periodontitis in a Japanese Population.Germline Variants of Prostate Cancer in Japanese Families.Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2.A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension.A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome.Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.Rare PDCD11 variations are not associated with risk of schizophrenia in Japan.Sphingomyelin Phosphodiesterase 3 Enhances Cytodifferentiation of Periodontal Ligament Cells.Role of Structural Bioinformatics in Drug Discovery by Computational SNP Analysis: Analyzing Variation at the Protein Level.Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease.KRIT1 mutations in three Japanese pedigrees with hereditary cavernous malformation.A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria.The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.MGST2 and WNT2 are candidate genes for comitant strabismus susceptibility in Japanese patients.Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.Integrated molecular analysis of Tamoxifen-resistant invasive lobular breast cancer cells identifies MAPK and GRM/mGluR signaling as therapeutic vulnerabilities.Mutation status of RAD51C, PALB2 and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations.Identification of MYLK3 mutations in familial dilated cardiomyopathy.DBTSS/DBKERO for integrated analysis of transcriptional regulation.Whole exome sequencing to identify genetic markers for trastuzumab-induced cardiotoxicity.Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy.Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder.Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease.Novel mutation of OCRL1 in Lowe syndrome with multiple epidermal cysts.Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers.Effects of paraoxonase 1 on the cytodifferentiation and mineralization of periodontal ligament cells.A genome-wide association study in the Japanese population identifies the 12q24 locus for habitual coffee consumption: The J-MICC Study.Novel therapeutic strategy for cervical cancer harboring FGFR3-TACC3 fusions.Genome-wide association study of self-reported food reactions in Japanese identifies shrimp and peach specific loci in the HLA-DR/DQ gene region.Risk allele of the FZD4 gene for familial exudative vitreoretinopathy.Clinical features of chronic enteropathy associated with SLCO2A1 gene: a new entity clinically distinct from Crohn's disease.Population Stratification in Genetic Association Studies.Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.Hypoxia-Sensitive COMMD1 Integrates Signaling and Cellular Metabolism in Human Macrophages and Suppresses Osteoclastogenesis.A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5).
P2860
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P2860
Human genetic variation database, a reference database of genetic variations in the Japanese population.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 25 February 2016
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Human genetic variation databa ...... ns in the Japanese population.
@en
Human genetic variation databa ...... ns in the Japanese population.
@nl
type
label
Human genetic variation databa ...... ns in the Japanese population.
@en
Human genetic variation databa ...... ns in the Japanese population.
@nl
prefLabel
Human genetic variation databa ...... ns in the Japanese population.
@en
Human genetic variation databa ...... ns in the Japanese population.
@nl
P2093
P2860
P50
P356
P1476
Human genetic variation databa ...... ns in the Japanese population.
@en
P2093
Akihiro Umezawa
Fumihiko Matsuda
Hiroyuki Ishiura
Jun Mitsui
Jun Yoshimura
Kazuhiko Nakabayashi
Keiko Hayashi
Keiko Nakayama
Kenichiro Hata
Kohji Okamura
P2860
P2888
P304
P356
10.1038/JHG.2016.12
P577
2016-02-25T00:00:00Z
P6179
1016186613