Varaico: Literature-Extracted Genetic Variants

Gene:AHCY
Variant:p.R335C
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AHCY

NM_000687.4:p.R335C

Associated Papers

Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases.

Sivakumaran TA et al.

Genetics in Medicine Open, 2025

InMeRF: prediction of pathogenicity of missense variants by individual modeling for each amino acid substitution.

Takeda JI et al.

Nar Genomics and Bioinformatics, 2020

33543123 (PubMed )
Supplement: lqaa038_supplemental_files.zip › Supplementary_Information_202000303_MBS.docx
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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."