Varaico: Literature-Extracted Genetic Variants

Gene:MUTYH
Variant:p.L229P
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MUTYH

NM_001048174.2:p.L229P

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

Genomic variations integrated database for MUTYH-associated adenomatous polyposis.

Grandval P et al.

Journal of Medical Genetics, 2015

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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."