iJGVD: an integrative Japanese genome variation database based on whole-genome sequencing.
about
Germline Variants of Prostate Cancer in Japanese Families.A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome.Social and Communicative Functions of Informed Consent Forms in East Asia and Beyond.A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome.Inherited, not acquired, Gitelman syndrome in a patient with Sjögren's syndrome: importance of genetic testing to distinguish the two forms.DBTSS/DBKERO for integrated analysis of transcriptional regulation.jMorp: Japanese Multi Omics Reference Panel.Pharmacogenetics of thiopurines for inflammatory bowel disease in East Asia: prospects for clinical application of NUDT15 genotyping.Pseudo-homozygous mutation due to a primer site polymorphism in hereditary ATTR amyloidosis: a pitfall of PCR-based genetic testing.Allele-specific DNA methylation of disease susceptibility genes in Japanese patients with inflammatory bowel disease.Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.Identification of somatic mutations in monozygotic twins discordant for psychiatric disorders.Factor X heterozygous mutation in a patient with potential risk of bleeding: A case report.Exome and copy number variation analyses of Mayer-Rokitansky-Küster- Hauser syndrome
P2860
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P2860
iJGVD: an integrative Japanese genome variation database based on whole-genome sequencing.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
iJGVD: an integrative Japanese ...... ed on whole-genome sequencing.
@ast
iJGVD: an integrative Japanese ...... ed on whole-genome sequencing.
@en
type
label
iJGVD: an integrative Japanese ...... ed on whole-genome sequencing.
@ast
iJGVD: an integrative Japanese ...... ed on whole-genome sequencing.
@en
prefLabel
iJGVD: an integrative Japanese ...... ed on whole-genome sequencing.
@ast
iJGVD: an integrative Japanese ...... ed on whole-genome sequencing.
@en
P2093
P2860
P356
P1476
iJGVD: an integrative Japanese ...... ed on whole-genome sequencing.
@en
P2093
Fumiki Katsuoka
Jun Yasuda
Kaname Kojima
Masao Nagasaki
Masayuki Yamamoto
Minoru Tateno
Naoki Nariai
Yosuke Kawai
Yukuto Sato
Yumi Yamaguchi-Kabata
P2860
P2888
P356
10.1038/HGV.2015.50
P577
2015-11-26T00:00:00Z
P5875
P6179
1046472396