Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.R171H
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STXBP1

NM_001032221.6:p.R171H

Associated Papers

Genetic landscape of a cohort of children with varicella-zoster virus encephalitis, cerebellitis and stroke.

Winzig F et al.

The Journal of Infectious Diseases, 2025

40848267 (PubMed )
Supplement: jiaf448_supplementary_data.zip › Suppl_Table_6_FINAL.pdf

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 › Raw_data

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM8_ESM.xlsx › Validated_mutations

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM5_ESM.xlsx › Supplementary_Data_3
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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."