Varaico: Literature-Extracted Genetic Variants

Gene:NEFH
Variant:p.E700A
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NEFH

NM_021076.4:p.E700A

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HPK7_het

Genetic and Phenotypic Spectrum of Amyotrophic Lateral Sclerosis Patients with CCNF Variants from a Large Chinese Cohort.

Zhao B et al.

Molecular Neurobiology, 2023

Whole-exome sequencing analysis identifies distinct mutational profile and novel prognostic biomarkers in primary gastrointestinal diffuse large B-cell lymphoma.

Li SS et al.

Experimental Hematology & Oncology, 2022

36243813 (PubMed )
Supplement: 40164_2022_325_MOESM2_ESM.xlsx › Sheet1
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