Varaico: Literature-Extracted Genetic Variants

Gene:SPTAN1
Variant:p.Q2298_Q2301ins1
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SPTAN1

NM_001130438.3:p.Q2298_Q2301ins1

Associated Papers

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.

De Winter J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

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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."