Varaico: Literature-Extracted Genetic Variants

Gene:NEFM
Variant:p.A144T
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NEFM

NM_005382.2:p.A144T

Associated Papers

Differences in genome, transcriptome, miRNAome, and methylome in synchronous and metachronous liver metastasis of colorectal cancer.

Horak J et al.

Frontiers in Oncology, 2023

37182133 (PubMed )
Supplement: DataSheet_1.zip › Supplementary_Table_S2.xlsx › Sheet1

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

34511133 (PubMed )
Supplement: 12920_2021_1073_MOESM2_ESM.xlsx › Rare_variants
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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."