Varaico: Literature-Extracted Genetic Variants

Gene:NEFL
Variant:p.L94F
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NEFL

NM_006158.5:p.L94F

Associated Papers

Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.

Kulsirichawaroj P et al.

Pediatric Research, 2025

Frequent De Novo Mutations in Korean Patients With Charcot-Marie-Tooth Disease.

Lee AJ et al.

Journal of the Peripheral Nervous System : Jpns, 2025

Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand.

Kulsirichawaroj P et al.

Journal of Neuromuscular Diseases, 2024

Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.

Sun B et al.

Journal of the Peripheral Nervous System : Jpns, 2017

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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."