Varaico: Literature-Extracted Genetic Variants

Gene:NEBL
Variant:p.H171R
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NEBL

NM_006393.3:p.H171R

Associated Papers

Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.

Noureddine M et al.

Frontiers in Physiology, 2023

Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.

Perrot A et al.

Archives of Medical Science : Ams, 2016

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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."