Varaico: Literature-Extracted Genetic Variants

Gene:AP3D1
Variant:p.S1045F
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AP3D1

NM_001261826.3:p.S1045F

Associated Papers

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc5.xlsx › nSMs

Genetic Markers of Spina Bifida: Enrichment of Pathogenic Variants and Variants of Uncertain Significance.

Sharma J et al.

Journal of Indian Association of Pediatric Surgeons, 0

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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."