Varaico: Literature-Extracted Genetic Variants

Gene:BICD2
Variant:p.R622W
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BICD2

NM_001003800.2:p.R622W

Associated Papers

Clinical spectrum of BICD2 mutations.

Frasquet M et al.

European Journal of Neurology, 2020

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

Koboldt DC et al.

Annals of Neurology, 2020

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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."