Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.V368delFs
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APC

NM_000038.6:p.V368delFs

Associated Papers

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 › e_Cli-data

Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families.

Schwarzová L et al.

Familial Cancer, 2013

DHPLC analysis of adenomatous polyposis coli (APC) mutations using ready-to-use APC plates: simple detection of multiple base pair deletion mutations.

Kim IJ et al.

Genetic Testing, 2008

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."