Varaico: Literature-Extracted Genetic Variants

Gene:BICD2
Variant:p.S608L
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BICD2

NM_001003800.2:p.S608L

Associated Papers

Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome.

Caglayan AO et al.

Journal of Human Genetics, 2022

Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy.

Wu C et al.

Annals of Clinical and Translational Neurology, 2022

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Germline_SNPs

A novel mutation of BICD2 gene associated with juvenile amyotrophic lateral sclerosis.

Huang X et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2017

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."