Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.Y165C
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PIK3CA

NM_006218.4:p.Y165C

Associated Papers

Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel-Trenaunay syndrome in an Asian population : List the full names and institutional addresses for all authors.

Sasaki Y et al.

Orphanet Journal of Rare Diseases, 2023

37667289 (PubMed )
Supplement: 13023_2023_2893_MOESM1_ESM.xlsx › Sup_Table_1

Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.

Brouillard P et al.

Orphanet Journal of Rare Diseases, 2021

Risk Assessment and Genetic Testing for Inherited Gastrointestinal Syndromes.

Stoll J et al.

Gastroenterology & Hepatology, 2019

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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."