Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.R292P
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STXBP1

NM_001032221.6:p.R292P

Associated Papers

Assessing the landscape of STXBP1-related disorders in 534 individuals.

Xian J et al.

Brain : a Journal of Neurology, 2022

35190816 (PubMed )
Supplement: awab327_supplementary_data.zip › brain-2021-00642-File011.xlsx › Table_S1_Genotype_Data

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.

Galer PD et al.

American Journal of Human Genetics, 2020

32853554 (PubMed )
Supplement: mmc2.xlsx › S6
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