Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation.
about
Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.Clinical and genetic findings in children with central nervous system arteriovenous fistulas.How activating mutations affect MEK1 regulation and function.Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.RET somatic mutations are underrecognized in Hirschsprung disease.Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organs.Vascular Anomalies: From a Clinicohistologic to a Genetic Framework.Somatic activating mutations in MAP2K1 cause melorheostosis.Intrinsically active MEK variants are differentially regulated by proteinases and phosphatases
P2860
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P2860
Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation.
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年学术文章
@wuu
2017年学术文章
@zh-cn
2017年学术文章
@zh-hans
2017年学术文章
@zh-my
2017年学术文章
@zh-sg
2017年學術文章
@yue
2017年學術文章
@zh
2017年學術文章
@zh-hant
name
Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation.
@en
type
label
Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation.
@en
prefLabel
Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation.
@en
P2093
P2860
P1476
Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation.
@en
P2093
Arin K Greene
Dennis J Konczyk
Javier A Couto
Jeremy A Goss
John B Mulliken
Matthew L Warman
Steven J Fishman
P2860
P304
P356
10.1016/J.AJHG.2017.01.018
P407
P577
2017-01-30T00:00:00Z