Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.L257del1
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STXBP1

NM_001032221.6:p.L257del1

Associated Papers

Resolving unsolved whole-genome sequencing data in paediatric neurological disorders: a cohort study.

Chi CS et al.

Archives of Disease in Childhood, 2024

38789118 (PubMed )
Supplement: archdischild-2024-326985supp002.pdf
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