Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.Q752*
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TRPM4

NM_017636.4:p.Q752*

Associated Papers

Truncated titin is structurally integrated into the human dilated cardiomyopathic sarcomere.

Kellermayer D et al.

The Journal of Clinical Investigation, 2024

37962957 (PubMed )
Supplement: jci-134-169753-s012.xlsx › Munka1

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 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."