Varaico: Literature-Extracted Genetic Variants

Gene:TEFM
Variant:p.P157A
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TEFM

NM_024683.4:p.P157A

Associated Papers

Clinical and Radiological Characterization of TEFM-Associated Neurological Disorder.

Adarsha N et al.

American Journal of Medical Genetics. Part A, 2025

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.

Polavarapu K et al.

Brain : a Journal of Neurology, 2024

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.

Van Haute L et al.

Nature Communications, 2023

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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."