Varaico: Literature-Extracted Genetic Variants

Gene:NEFL
Variant:p.R421Q
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NEFL

NM_006158.5:p.R421Q

Associated Papers

Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.

Chen CX et al.

Clinical Genetics, 2019

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.

Bevilacqua JA et al.

Acta Neuropathologica, 2009

118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy).

Bertini E et al.

Neuromuscular Disorders : Nmd, 2004

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