Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
about
Understanding Genotypes and Phenotypes in Epileptic EncephalopathiesGenome annotation for clinical genomic diagnostics: strengths and weaknessesPredictors of incident epilepsy in older adults: The Cardiovascular Health Study.Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy.Identifying domains of EFHC1 involved in ciliary localization, ciliogenesis, and the regulation of Wnt signaling.EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.EFHC1 mutation in Indian juvenile myoclonic epilepsy patient.
P2860
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P2860
Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
description
2014 nî lūn-bûn
@nan
2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Pathogenic EFHC1 mutations are ...... ependent on reported ancestry.
@ast
Pathogenic EFHC1 mutations are ...... ependent on reported ancestry.
@en
Pathogenic EFHC1 mutations are ...... ependent on reported ancestry.
@nl
type
label
Pathogenic EFHC1 mutations are ...... ependent on reported ancestry.
@ast
Pathogenic EFHC1 mutations are ...... ependent on reported ancestry.
@en
Pathogenic EFHC1 mutations are ...... ependent on reported ancestry.
@nl
prefLabel
Pathogenic EFHC1 mutations are ...... ependent on reported ancestry.
@ast
Pathogenic EFHC1 mutations are ...... ependent on reported ancestry.
@en
Pathogenic EFHC1 mutations are ...... ependent on reported ancestry.
@nl
P2093
P2860
P356
P1433
P1476
Pathogenic EFHC1 mutations are ...... ependent on reported ancestry.
@en
P2093
David A Greenberg
Juliette M Conte
Ryan L Subaran
William C L Stewart
P2860
P304
P356
10.1111/EPI.12864
P577
2014-12-08T00:00:00Z