Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
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The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.Mutations of KIF14 Cause Primary Microcephaly by Impairing Cytokinesis.De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation.Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome
P2860
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P2860
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
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2014 nî lūn-bûn
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2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
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2014 թվականի նոյեմբերին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年论文
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name
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
@ast
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
@en
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
@nl
type
label
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
@ast
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
@en
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
@nl
prefLabel
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
@ast
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
@en
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
@nl
P2093
P2860
P50
P1476
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
@en
P2093
Agatino Battaglia
Alan Fryer
Angelika Anna Noegel
Angus Dobbie
Bernd Wollnik
Dian Donnai
Emrah Kaygusuz
Ferda Percin
Filippo Beleggia
Francesco Brancati
P2860
P304
P356
10.1016/J.AJHG.2014.10.008
P407
P577
2014-11-06T00:00:00Z