EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.
about
GeMSTONE: orchestrated prioritization of human germline mutations in the cloudMicrotubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy.Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.EFHC1 mutation in Indian juvenile myoclonic epilepsy patient.
P2860
EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
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
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh
2016年學術文章
@zh-hant
name
EFHC1 variants in juvenile myo ...... r assigning disease causality.
@en
EFHC1 variants in juvenile myo ...... r assigning disease causality.
@nl
type
label
EFHC1 variants in juvenile myo ...... r assigning disease causality.
@en
EFHC1 variants in juvenile myo ...... r assigning disease causality.
@nl
prefLabel
EFHC1 variants in juvenile myo ...... r assigning disease causality.
@en
EFHC1 variants in juvenile myo ...... r assigning disease causality.
@nl
P2093
P2860
P50
P356
P1433
P1476
EFHC1 variants in juvenile myo ...... r assigning disease causality.
@en
P2093
Bernard Lakaye
Christopher Patterson
Elza Marcia Targas Yacubian
Jenny E Wight
Jesús Machado-Salas
Laura Guilhoto
Laurence de Nijs
María E Alonso
Miyabi Tanaka
Thierry M Grisar
P2860
P2888
P304
P356
10.1038/GIM.2016.86
P407
P50
P577
2016-07-28T00:00:00Z