Varaico: Literature-Extracted Genetic Variants

Gene:NLRC3
Variant:p.R940H
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NLRC3

NM_178844.4:p.R940H

Associated Papers

RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.

Wong S et al.

Embo Molecular Medicine, 2023

37066513 (PubMed )
Supplement: EMMM-15-e17078-s005.xlsx › Homozygous

Rare variants in IFFO1, DTNB, NLRC3 and SLC22A10 associate with Alzheimer's disease CSF profile of neuronal injury and inflammation.

Neumann A et al.

Molecular Psychiatry, 2022

35173266 (PubMed )
Supplement: 41380_2022_1437_MOESM2_ESM.xlsx › single_variants_annotation

From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene.

Kherraf ZE et al.

Asian Journal of Andrology, 0

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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."