Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic ALPK3-Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum.

IF 6 2区医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS

Circulation: Genomic and Precision Medicine Pub Date : 2023-10-01 Epub Date: 2023-09-06 DOI:10.1161/CIRCGEN.123.004094

Laura A Grutters, Jolien S Klein Wassink-Ruiter, Trijnie Dijkhuizen, Hessel P Nijenhuis, Jan D H Jongbloed, Johanna C Herkert

引用次数: 0

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双等位基因ALPK3相关心肌病染色体15q25.2q25.3的连续基因缺失：表型表现和变异谱的新见解。

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

Circulation: Genomic and Precision Medicine Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

9.20

自引率

5.40%

发文量

144

期刊介绍： Circulation: Genomic and Precision Medicine is a distinguished journal dedicated to advancing the frontiers of cardiovascular genomics and precision medicine. It publishes a diverse array of original research articles that delve into the genetic and molecular underpinnings of cardiovascular diseases. The journal's scope is broad, encompassing studies from human subjects to laboratory models, and from in vitro experiments to computational simulations. Circulation: Genomic and Precision Medicine is committed to publishing studies that have direct relevance to human cardiovascular biology and disease, with the ultimate goal of improving patient care and outcomes. The journal serves as a platform for researchers to share their groundbreaking work, fostering collaboration and innovation in the field of cardiovascular genomics and precision medicine.