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Novel Variant Shows Multiple Phenotypic Expression in the Same Family.

作者信息

Balla Cristina, Mele Daniela, Vitali Francesco, Andreoli Chiara, Tonet Elisabetta, Sanchini Mariabeatrice, Ferlini Alessandra, Rapezzi Claudio, Gualandi Francesca, Bertini Matteo

机构信息

Cardiological Center (C.B., D.M., F.V., E.T., C.R., M.B.).

Cardiology Unit, San Giovanni Battista Hospital Foligno (C.A.).

出版信息

Circ Genom Precis Med. 2021 Dec;14(6):e003481. doi: 10.1161/CIRCGEN.121.003481. Epub 2021 Nov 9.

DOI:10.1161/CIRCGEN.121.003481
PMID:34749512
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8694256/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6cb7/8694256/261a12960177/hcg-14-e003481-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6cb7/8694256/261a12960177/hcg-14-e003481-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6cb7/8694256/261a12960177/hcg-14-e003481-g001.jpg

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2
Beyond the One Gene-One Disease Paradigm: Complex Genetics and Pleiotropy in Inheritable Cardiac Disorders.超越单基因-单疾病模式：遗传性心脏疾病中的复杂遗传学和多效性。
Circulation. 2019 Aug 13;140(7):595-610. doi: 10.1161/CIRCULATIONAHA.118.035954. Epub 2019 Aug 12.
3
Relations between right ventricular morphology and clinical, electrical and genetic parameters in Brugada Syndrome.
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PLoS One. 2018 Apr 13;13(4):e0195594. doi: 10.1371/journal.pone.0195594. eCollection 2018.
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