Varaico: Literature-Extracted Genetic Variants

Gene:TNNT1
Variant:p.L96P
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TNNT1

NM_003283.6:p.L96P

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

Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene.

Martín-Jiménez P et al.

Muscle & Nerve, 2022

Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala).

Holling T et al.

Human Mutation, 2022

TNNT1 myopathy with novel compound heterozygous mutations.

Lee S et al.

Neuromuscular Disorders : Nmd, 2022

Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.

Pellerin D et al.

Annals of Neurology, 2020

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