Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.D109D
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PTEN

NM_000314.8:p.D109D

Associated Papers

Clinical and Molecular Investigation of Familial Multiple Lipomatosis: Variants in the HMGA2 Gene.

Mejía Granados DM et al.

Clinical, Cosmetic and Investigational Dermatology, 2020

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Kanavy DM et al.

Genome Medicine, 2019

31783775 (PubMed )
Supplement: 13073_2019_683_MOESM2_ESM.xlsx › Table_S6_MYH7_A
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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."