Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.Q215_R216Splc
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APC

NM_000038.6:p.Q215_R216Splc

Associated Papers

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM2_ESM.pdf

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.

Yin X et al.

American Journal of Human Genetics, 2024

39357517 (PubMed )
Supplement: mmc2.xlsx › d_Exp-data

Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.

Stekrova J et al.

Bmc Medical Genetics, 2007

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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."