Varaico: Literature-Extracted Genetic Variants

Gene:NEFH
Variant:p.K219_A220del1
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NEFH

NM_021076.4:p.K219_A220del1

Associated Papers

ABCA6 Regulates Chondrogenesis and Inhibits Joint Degeneration via Orchestrated Cholesterol Efflux and Cellular Senescence.

Wang Y et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

39823538 (PubMed )
Supplement: ADVS-12-2410414-s003.xlsx › Sheet1

Identification of the distinct genomic features in gastroesophageal junction adenocarcinoma and its Siewert subtypes.

Geng Q et al.

The Journal of Pathology, 2020

Integrative multiplatform molecular profiling of benign prostatic hyperplasia identifies distinct subtypes.

Liu D et al.

Nature Communications, 2020

32332823 (PubMed )
Supplement: 41467_2020_15913_MOESM6_ESM.xlsx › Sheet1

Multi-Omics Characterization of the Spontaneous Mesenchymal-Epithelial Transition in the PMC42 Breast Cancer Cell Lines.

Bhatia S et al.

Journal of Clinical Medicine, 2019

31430931 (PubMed )
Supplement: jcm-08-01253-s001.zip › Supplementary_Info › Suppl_Tables.xlsx › _S6.ET_Indel_deleterious

Heterogeneous pathway activation and drug response modelled in colorectal-tumor-derived 3D cultures.

Schumacher D et al.

Plos Genetics, 2019

30925167 (PubMed )
Supplement: pgen.1008076.s013.xlsx › S8_Table

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

Clonal Structures of Regionally Synchronous Gastric Adenomas and Carcinomas.

Jung SH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018

29945994 (PubMed )
Supplement: 10780432ccr180345-sup-196274_3_supp_4826357_pjb33v.xlsx › Table_S2

Mutational signatures and chromosome alteration profiles of squamous cell carcinomas of the vulva.

Han MR et al.

Experimental & Molecular Medicine, 2018

29422544 (PubMed )
Supplement: emm2017265x2.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_primary
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