Varaico: Literature-Extracted Genetic Variants

Gene:AP3D1
Variant:p.R117C
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AP3D1

NM_001261826.3:p.R117C

Associated Papers

Genomic landscape of paired primary and peritoneal metastatic lesions in gastric cancer highlights evolutionary dynamics and mutational drivers.

Li S et al.

Journal of Advanced Research, 2025

40436141 (PubMed )
Supplement: 1-s2.0-S2090123225003625-mmc2.xlsx › Table_S3

A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.

Seaby EG et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Middle_priority
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