Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
about
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life.Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.The mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome
P2860
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
Pathogenic ASXL1 somatic varia ...... on for Bohring-Opitz Syndrome.
@en
Pathogenic ASXL1 somatic varia ...... on for Bohring-Opitz Syndrome.
@nl
type
label
Pathogenic ASXL1 somatic varia ...... on for Bohring-Opitz Syndrome.
@en
Pathogenic ASXL1 somatic varia ...... on for Bohring-Opitz Syndrome.
@nl
prefLabel
Pathogenic ASXL1 somatic varia ...... on for Bohring-Opitz Syndrome.
@en
Pathogenic ASXL1 somatic varia ...... on for Bohring-Opitz Syndrome.
@nl
P2093
P2860
P356
P1433
P1476
Pathogenic ASXL1 somatic varia ...... on for Bohring-Opitz Syndrome.
@en
P2093
Anne H O'Donnell-Luria
Ben Weisburd
Beryl B Cummings
Colleen M Carlston
Daniel G MacArthur
Daniel P Birnbaum
Exome Aggregation Consortium
Hunter R Underhill
Tatiana Tvrdik
P2860
P304
P356
10.1002/HUMU.23203
P50
P577
2017-03-21T00:00:00Z