Varaico: Literature-Extracted Genetic Variants

Gene:NEFH
Variant:p.K790del1
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NEFH

NM_021076.4:p.K790del1

Associated Papers

Study of sex-biased differences in genomic profiles in East Asian hepatocellular carcinoma.

Huang CY et al.

Discover Oncology, 2024

38981878 (PubMed )
Supplement: 12672_2024_1131_MOESM2_ESM.xlsx › Mutation

Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS.

Marriott H et al.

Annals of Clinical and Translational Neurology, 2024

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

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

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

Morgan S et al.

Brain : a Journal of Neurology, 2017

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.

Kenna KP et al.

Journal of Medical Genetics, 2013

23881933 (PubMed )
Supplement: jmedgenet-2013-101795-s1.pdf
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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."