Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.V726M
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IGHMBP2

NM_002180.3:p.V726M

Associated Papers

TDP-43 seeding activity in the olfactory mucosa of patients with amyotrophic lateral sclerosis.

Vizziello M et al.

Molecular Neurodegeneration, 2025

40287755 (PubMed )
Supplement: 13024_2025_833_MOESM1_ESM.xls › Supplementary_table_1b

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HPK7_het

Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms.

Pensato V et al.

Journal of Clinical Medicine, 2020

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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."