De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.
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De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.
description
2017 nî lūn-bûn
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2017年の論文
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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
De novo pathogenic variant in ...... nd severe developmental delay.
@en
De novo pathogenic variant in ...... nd severe developmental delay.
@nl
type
label
De novo pathogenic variant in ...... nd severe developmental delay.
@en
De novo pathogenic variant in ...... nd severe developmental delay.
@nl
prefLabel
De novo pathogenic variant in ...... nd severe developmental delay.
@en
De novo pathogenic variant in ...... nd severe developmental delay.
@nl
P2093
P2860
P356
P1476
De novo pathogenic variant in ...... and severe developmental delay
@en
P2093
Anath C Lionel
Christian R Marshall
David Chitayat
Dimitri J Stavropoulos
Riyana Babul-Hirji
Susan Blaser
Susan Walker
P2860
P304
P356
10.1002/AJMG.A.38352
P407
P577
2017-08-25T00:00:00Z