Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R12A
Variant:p.S608Splc
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PPP1R12A

NM_002480.3:p.S608Splc

Associated Papers

Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow.

Maassen WTK et al.

Nar Genomics and Bioinformatics, 2026

A comprehensive analysis of germline predisposition to early-onset ovarian cancer.

Horackova K et al.

Scientific Reports, 2024

39003285 (PubMed )
Supplement: 41598_2024_66324_MOESM1_ESM.xlsx › S3_GPV_list
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