Varaico: Literature-Extracted Genetic Variants

Gene:BYSL
Variant:p.P426S
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BYSL

NM_004053.4:p.P426S

Associated Papers

Exome Sequencing of a Type 1 Diabetes Mellitus Family Exposes Both Common and Individualized Rare Variants Contributing to Pathogenesis.

Ibrahim TAM et al.

Journal of Diabetes Research, 2025

41376825 (PubMed )
Supplement: 3346256.f1.pdf

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1

Global view of the RAF-MEK-ERK module and its immediate downstream effectors.

Santini CC et al.

Scientific Reports, 2019

31350469 (PubMed )
Supplement: 41598_2019_47245_MOESM2_ESM.xlsx › TableS1.csv

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A7-A0CG-01A.domain
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