Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.
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Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.
description
2018 nî lūn-bûn
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2018年の論文
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2018年学术文章
@wuu
2018年学术文章
@zh
2018年学术文章
@zh-cn
2018年学术文章
@zh-hans
2018年学术文章
@zh-my
2018年学术文章
@zh-sg
2018年學術文章
@yue
2018年學術文章
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name
Variant in human POFUT1 reduce ...... cardiac and vascular features.
@en
Variant in human POFUT1 reduce ...... cardiac and vascular features.
@nl
type
label
Variant in human POFUT1 reduce ...... cardiac and vascular features.
@en
Variant in human POFUT1 reduce ...... cardiac and vascular features.
@nl
prefLabel
Variant in human POFUT1 reduce ...... cardiac and vascular features.
@en
Variant in human POFUT1 reduce ...... cardiac and vascular features.
@nl
P2093
P2860
P356
P1433
P1476
Variant in human POFUT1 reduce ...... cardiac and vascular features.
@en
P2093
Atsuko Ito
Derek Wong
Hideyuki Takeuchi
Hudson H Freeze
Megumi Takeuchi
Michael Schneider
Robert S Haltiwanger
Stanley F Nelson
Steven J Berardinelli
P2860
P356
10.1093/GLYCOB/CWY014
P577
2018-02-14T00:00:00Z