Varaico: Literature-Extracted Genetic Variants

Gene:NEFH
Variant:p.A744A
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NEFH

NM_021076.4:p.A744A

Associated Papers

DUSP5 and PHLDA1 mutations in mature cystic teratomas of the ovary identified on whole-exome sequencing may explain teratoma characteristics.

Wang WC et al.

Human Genomics, 2022

FUS P525L mutation causing amyotrophic lateral sclerosis and movement disorders.

Zhou B et al.

Brain and Behavior, 2020

32307925 (PubMed )
Supplement: BRB3-10-e01625-s002.xlsx › RawData

ALS and CHARGE syndrome: a clinical and genetic study.

Ungaro C et al.

Acta Neurologica Belgica, 2018

30317490 (PubMed )
Supplement: 13760_2018_1029_MOESM3_ESM.pdf

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."