Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype

IF 1.6 4区医学 Q3 GENETICS & HEREDITY

European journal of medical genetics Pub Date : 2023-12-01 DOI:10.1016/j.ejmg.2023.104907

J. Harkness, Huw B. Thomas, J. Urquhart, Peter Jamieson, Raymond T. O'Keefe, Helen M. Kingston, Charulata Deshpande, William G. Newman

引用次数: 0

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在一个具有可变枕角综合征表型的家族中，深内含子变异导致 ATP7A 剪接异常

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

European journal of medical genetics 医学-遗传学

CiteScore

4.10

自引率

0.00%

发文量

193

审稿时长

66 days

期刊介绍： The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.