Varaico: Literature-Extracted Genetic Variants

Gene:NEFL
Variant:p.R390Splc
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NEFL

NM_006158.5:p.R390Splc

Associated Papers

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.

Barretta F et al.

Genes, 2023

37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › S3__MITNGS_S3_

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.

Saveri P et al.

Cells, 2020

32326241 (PubMed )
Supplement: cells-09-01028-s001.zip › Table_S3.xlsx › 2449_S14_L001_annot_extract.tab
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