Varaico: Literature-Extracted Genetic Variants

Gene:NEFH
Variant:p.S285R
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NEFH

NM_021076.4:p.S285R

Associated Papers

The 2022 Lady Estelle Wolfson lectureship on neurofilaments.

Petzold A

Journal of Neurochemistry, 2022

The NGS technology for the identification of genes associated with the ALS. A systematic review.

Pecoraro V et al.

European Journal of Clinical Investigation, 2020

Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3' UTR in NEFH.

Nam DE et al.

Journal of the Peripheral Nervous System : Jpns, 2017

Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis.

Nishiyama A et al.

Neurobiology of Aging, 2017

Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort.

Nakamura R et al.

Neurobiology of Aging, 2016

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