Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT2
Variant:p.T94M
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NMNAT2

NM_015039.4:p.T94M

Associated Papers

Long read sequencing reveals novel genomic and epigenomic alterations in repetitive regions of high grade serous ovarian cancer.

Takamatsu S et al.

Scientific Reports, 2025

41168225 (PubMed )
Supplement: 41598_2025_21907_MOESM2_ESM.xlsx › SupTable_somatic_pathogenic_mut

Chronically Low NMNAT2 Expression Causes Sub-lethal SARM1 Activation and Altered Response to Nicotinamide Riboside in Axons.

Antoniou C et al.

Molecular Neurobiology, 2025

Macrophage depletion blocks congenital SARM1-dependent neuropathy.

Dingwall CB et al.

The Journal of Clinical Investigation, 2022

Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.

Li J et al.

Gut, 2020

31744909 (PubMed )
Supplement: gutjnl-2019-319438supp006.xlsx › _FAP__Potential_pathogenic

Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia.

Huppke P et al.

Experimental Neurology, 2019

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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."