Varaico: Literature-Extracted Genetic Variants

Gene:NEFH
Variant:p.A672E
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NEFH

NM_021076.4:p.A672E

Associated Papers

Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.

He P et al.

Frontiers in Oncology, 2023

36910641 (PubMed )
Supplement: DataSheet_1.xlsx › Table_S8

The 2022 Lady Estelle Wolfson lectureship on neurofilaments.

Petzold A

Journal of Neurochemistry, 2022

Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects.

Lin F et al.

Bmc Medical Genomics, 2021

Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort.

Grassano M et al.

Neurology, 2021

Highly similar genomic landscapes in monoclonal B-cell lymphocytosis and ultra-stable chronic lymphocytic leukemia with low frequency of driver mutations.

Agathangelidis A et al.

Haematologica, 2018

29449433 (PubMed )
Supplement: 2017.177212.AGATHANGELIDIS_SUPPL.pdf

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

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_2_late_met_1
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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."