Associated Papers
A novel BICD2 mutation of a patient with Spinal Muscular Atrophy Lower Extremity Predominant 2.
Tumurkhuu M et al.
Intractable & Rare Diseases Research, 2021
The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.
Koboldt DC et al.
Annals of Neurology, 2020
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
Storbeck M et al.
European Journal of Human Genetics : Ejhg, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.
Rossor AM et al.
Brain : a Journal of Neurology, 2015
Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein.
Martinez-Carrera LA et al.
Frontiers in Neuroscience, 2015
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