Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.Q216R
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TPM1

NM_001018005.2:p.Q216R

Associated Papers

Case report: cosegregation of a TPM1 in-frame deletion (p.Lys7del) with familial non-compaction cardiomyopathy (NCCM).

Hanel Y et al.

Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2024

Genetic architecture of left ventricular noncompaction in adults.

Ross SB et al.

Human Genome Variation, 2020

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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."