Publications:

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: PTEN: E114D

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.

Pigment Cell & Melanoma Research

Masaki, Taro T; Wang, Yun Y; DiGiovanna, John J JJ; Khan, Sikandar G SG; Raffeld, Mark M; Beltaifa, Senda S; Hornyak, Thomas J TJ; Darling, Thomas N TN; Lee, Chyi-Chia R CC; Kraemer, Kenneth H KH

Publication Date: 2014-05

Variant appearance in text: PTEN: E114D

PubMed Link: 24483290

Variant Present in the following documents:

• Main text

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