A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly.
about
A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly.
description
2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
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2016年学术文章
@zh
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
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2016年學術文章
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2016年學術文章
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name
A novel homozygous variant in ...... perfecta with hydranencephaly.
@en
A novel homozygous variant in ...... perfecta with hydranencephaly.
@nl
type
label
A novel homozygous variant in ...... perfecta with hydranencephaly.
@en
A novel homozygous variant in ...... perfecta with hydranencephaly.
@nl
prefLabel
A novel homozygous variant in ...... perfecta with hydranencephaly.
@en
A novel homozygous variant in ...... perfecta with hydranencephaly.
@nl
P2093
P1433
P1476
A novel homozygous variant in ...... perfecta with hydranencephaly.
@en
P2093
Charlotte Marshall
Jaime Lopez
Laura Crookes
P356
10.1016/J.GENE.2016.09.035
P407
P577
2016-09-24T00:00:00Z