Varaico: Literature-Extracted Genetic Variants

Gene:BICD2
Variant:p.N130S
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BICD2

NM_001003800.2:p.N130S

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

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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."