Varaico: Literature-Extracted Genetic Variants

Gene:BICD2
Variant:p.S744F
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BICD2

NM_001003800.2:p.S744F

Associated Papers

The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.

Koboldt DC et al.

Annals of Neurology, 2020

In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.

Koboldt DC et al.

Cold Spring Harbor Molecular Case Studies, 2018

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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."