Varaico: Literature-Extracted Genetic Variants

Gene:RFXAP
Variant:p.Q181H
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RFXAP

NM_000538.4:p.Q181H

Associated Papers

Evaluation of the genetic basis of familial-associated early-onset hematologic cancers in an ancestral/ethnically diverse population.

Feng Q et al.

Haematologica, 2024

38205536 (PubMed )
Supplement: 2023_284224_FENG_SUPPL_TABLES.xlsx › suppT4

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).

Pinto E Vairo F et al.

Journal of Translational Medicine, 2023

37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3
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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."