Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer.

IF 3.5 2区医学 Q2 GENETICS & HEREDITY

Journal of Medical Genetics Pub Date : 2024-10-23 DOI:10.1136/jmg-2024-110255

Anna Byrjalsen, Ulrik Kristoffer Stoltze, Charlotte Lautrup, Lise Lotte Christensen, Torben Mikkelsen, Lisa Hjalgrim, Jesper Sune Brok, Christine Dahl, Kjeld Schmiegelow, Lotte Borgwardt, Birgitte Rode Diness, Thomas Van Overeem Hansen, Karin A W Wadt

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新型种系 TP53 变异（p.(Phe109Ile)）可导致高癌症风险。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Medical Genetics 医学-遗传学

CiteScore

7.60

自引率

2.50%

发文量

审稿时长

4-8 weeks

期刊介绍： Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide.