Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.Q1291E
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APC

NM_000038.6:p.Q1291E

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 › d_Exp-data

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer?

Minde DP et al.

Molecular Cancer, 2011

21859464 (PubMed )
Supplement: 1476-4598-10-101-S1.DOC

Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.

Kaufmann A et al.

The Journal of Molecular Diagnostics : Jmd, 2009

Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations.

Gavert N et al.

Human Mutation, 2002

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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."