DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.
about
Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.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.
P2860
DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
DNA variants in coding region ...... h juvenile myoclonic epilepsy.
@ast
DNA variants in coding region ...... h juvenile myoclonic epilepsy.
@en
type
label
DNA variants in coding region ...... h juvenile myoclonic epilepsy.
@ast
DNA variants in coding region ...... h juvenile myoclonic epilepsy.
@en
prefLabel
DNA variants in coding region ...... h juvenile myoclonic epilepsy.
@ast
DNA variants in coding region ...... h juvenile myoclonic epilepsy.
@en
P2093
P2860
P50
P1433
P1476
DNA variants in coding region ...... th juvenile myoclonic epilepsy
@en
P2093
Adriana Ochoa
Astrid Rasmussen
Dongsheng Bai
Jesús Machado-Salas
Julia N Bailey
María E Alonso
Minerva López-Ruiz
Miyabi Tanaka
Ramón H Castro Ortega
Ricardo Ramos-Ramírez
P2860
P304
P356
10.1111/J.1528-1167.2008.01762.X
P50
P577
2009-05-01T00:00:00Z