Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.R551S
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STXBP1

NM_001032221.6:p.R551S

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

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _B__Y2H-SI_disease_mut

STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?

Lanoue V et al.

Neurology, 2019

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