Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC2
Variant:p.V311A
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NHLRC2

NM_198514.4:p.V311A

Associated Papers

Altered behaviour and immune response in mice with NHLRC2 p.Asp148Tyr variant.

Hiltunen AE et al.

Brain, Behavior, & Immunity - Health, 2025

Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.

Tallgren A et al.

Frontiers in Neuroscience, 2023

Case report: novel mutations of NDUFS6 and NHLRC2 genes potentially cause the quick postnatal death of a Chinese Hani minority neonate with mitochondrial complex I deficiency and FINCA syndrome.

Li Y et al.

Medicine, 2022

Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease.

Hiltunen AE et al.

Molecular Medicine (cambridge, Mass.), 2020

Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease.

Paakkola T et al.

Human Molecular Genetics, 2018

A survey of functional genomic variation in domesticated chickens.

Derks MFL et al.

Genetics, Selection, Evolution : Gse, 2018

Genotype disclosure in the genomics era: roles and responsibilities.

Denholm L

Australian Veterinary Journal, 2017

Notomelia and related neural tube defects in a baby born in Niger: case report and literature review.

Kelani AB et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2017

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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."