Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.H346N
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STXBP2

NM_006949.4:p.H346N

Associated Papers

Autosomal Recessive Limb-Girdle Muscular Dystrophy-3: A Case Report of a Patient with Autism Spectrum Disorder.

Lewis S et al.

Genes, 2023

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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."