Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.
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Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.
description
2017 nî lūn-bûn
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2017年の論文
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2017年学术文章
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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
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2017年學術文章
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2017年學術文章
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name
Bi-allelic variants in COL3A1 ...... changes and cerebellar cysts.
@en
type
label
Bi-allelic variants in COL3A1 ...... changes and cerebellar cysts.
@en
prefLabel
Bi-allelic variants in COL3A1 ...... changes and cerebellar cysts.
@en
P2093
P50
P1476
Bi-allelic variants in COL3A1 ...... changes and cerebellar cysts.
@en
P2093
Agnete Jørgensen
Filip Roelens
Florence Petit
Laura Vandervore
Melanie G Pepin
Muriel Holder-Espinasse
Peter H Byers
Philippe Khau Van Kien
Willy Lissens
P304
P356
10.1136/JMEDGENET-2016-104421
P407
P50
P577
2017-03-03T00:00:00Z