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Updated: Jun 10, 2025

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
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家庭传说,一个不确定的意义的变体,和偶然

Rhys Duarte1, Liesbeth Vossaert1,2, Sandra A Darilek1,3

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Texas, USA.

American journal of medical genetics. Part C, Seminars in medical genetics
|October 21, 2024
PubMed
概括

一个罕见的NOTCH3基因变异,最初的意义不确定,在一个患有严重症状的婴儿中被确定. 这种变种被重新归类为可能致病的,这解释了婴儿的病情和其他家庭健康问题.

关键词:
卡达西尔 (CADASIL) 是一种脑血管疾病 脑血管疾病家庭历史 家庭历史遗传性疾病 遗传性疾病在内生婴儿出生时.

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