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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BICD2

Variant:p.Q702_T703Splc

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BICD2

NM_001003800.2:p.Q702_T703Splc

hg38:chr9:92717950 T>C

Associated Papers

A Novel De Novo Splice Acceptor Variant in BICD2 Is Associated With Spinal Muscular Atrophy.

Del Gobbo GF et al.

American Journal of Medical Genetics. Part A, 2025

39559931 (PubMed )

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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."