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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPTBN1

Variant:p.D262V

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SPTBN1

NM_003128.3:p.D262V

hg38:chr2:54621421 A>T

Associated Papers

A Case of Infantile Epileptic Spasms Syndrome with the SPTBN1 Mutation and Review of βII-Spectrin Variants.

Jang HN et al.

Genes, 2025

40869952 (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."