Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.
about
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.
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
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-hant
name
Compound heterozygous TRPV4 mu ...... ual disability and neuropathy.
@en
Compound heterozygous TRPV4 mu ...... ual disability and neuropathy.
@nl
type
label
Compound heterozygous TRPV4 mu ...... ual disability and neuropathy.
@en
Compound heterozygous TRPV4 mu ...... ual disability and neuropathy.
@nl
prefLabel
Compound heterozygous TRPV4 mu ...... ual disability and neuropathy.
@en
Compound heterozygous TRPV4 mu ...... ual disability and neuropathy.
@nl
P2093
P2860
P50
P356
P1476
Compound heterozygous TRPV4 mu ...... ual disability and neuropathy.
@en
P2093
Colin H Peters
Cynthia Gershome
FORGE Canada Consortium
Gabriella A Horvath
Glenda Hendson
Katelin N Townsend
Kathryn Selby
Patrick M Macleod
Peter Ruben
William T Gibson
P2860
P304
P356
10.1002/AJMG.A.38400
P407
P577
2017-09-12T00:00:00Z