Varaico: Literature-Extracted Genetic Variants

Gene:WWP1
Variant:p.M728L
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WWP1

NM_007013.4:p.M728L

Associated Papers

Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome.

Gonzalez-Abuin N et al.

Genes & Diseases, 2024

37692519 (PubMed )
Supplement: mmc1.pdf

WWP1 germline variants are associated with normocephalic autism spectrum disorder.

Novelli G et al.

Cell Death & Disease, 2020

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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."