Varaico: Literature-Extracted Genetic Variants

Gene:ATP6AP1
Variant:p.R225C
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ATP6AP1

NM_001183.6:p.R225C

Associated Papers

Clinical and genetic spectrum of inborn errors of immunity: a retrospective study on outcomes at a single center.

Kose H et al.

Frontiers in Immunology, 2026

The genomic and transcriptomic landscape of metastastic urothelial cancer.

Loriot Y et al.

Nature Communications, 2024

39366934 (PubMed )
Supplement: 41467_2024_52915_MOESM10_ESM.xlsx › SuppTable7_eMIBC-Somatic_alt
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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."