Varaico: Literature-Extracted Genetic Variants

Gene:TNNT1
Variant:p.A242P
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TNNT1

NM_003283.6:p.A242P

Associated Papers

A rare TNNT1 gene variant causing creatine kinase elevation in nemaline myopathy: c.271_273del (p.Lys91del).

Yavaş C et al.

Genes & Genomics, 2024

TNNT1 myopathy with novel compound heterozygous mutations.

Lee S et al.

Neuromuscular Disorders : Nmd, 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."