Varaico: Literature-Extracted Genetic Variants

Gene:CALM1
Variant:p.D134E
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CALM1

NM_006888.6:p.D134E

Associated Papers

Case report of a child with long QT syndrome type 14 caused by CALM1 gene mutation and literature review.

Sun Q et al.

Molecular Genetics & Genomic Medicine, 2024

Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1.

Akgun-Dogan O et al.

Journal of Cardiovascular Electrophysiology, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."