Varaico: Literature-Extracted Genetic Variants

Gene:PRKCSH
Variant:p.S74N
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PRKCSH

NM_001289104.2:p.S74N

Associated Papers

General Trends in the Calnexin-Dependent Expression and Pharmacological Rescue of Clinical CFTR Variants.

Tedman A et al.

Biorxiv : the Preprint Server for Biology, 2025

40964320 (PubMed )
Supplement: media-1.pdf

PgxSAVy: A tool for comprehensive evaluation of variant peptide quality in proteogenomics - catching the (un)usual suspects.

Raj A et al.

Computational and Structural Biotechnology Journal, 2024

38292474 (PubMed )
Supplement: mmc4.xlsx › HEK_DiseaseAnnotation
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