Varaico: Literature-Extracted Genetic Variants

Gene:NEFH
Variant:p.K651_E659del9
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NEFH

NM_021076.4:p.K651_E659del9

Associated Papers

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants

Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.

Pasternak Y et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

38800615 (PubMed )
Supplement: mmc2.xlsx › P5-potential_comp.het.

Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses.

Brzezinski J et al.

British Journal of Cancer, 2021

33012783 (PubMed )
Supplement: 41416_2020_1102_MOESM7_ESM.xlsx › Sheet1

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

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › b__Freq_TP096

Genomic variations in paired normal controls for lung adenocarcinomas.

Qu LW et al.

Oncotarget, 2017

Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy.

Lewis-Smith DJ et al.

Neurology. Genetics, 2016

27830184 (PubMed )
Supplement: supp_2.6.e110_Supplementary_material.pdf

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_1_late_met_1
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