Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.D285E
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STXBP1

NM_001032221.6:p.D285E

Associated Papers

Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance.

Hopkins CE et al.

Genetics in Medicine Open, 2023

38827422 (PubMed )
Supplement: NIHMS1995105-supplement-table.xlsx › Variant_list
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