Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC2
Variant:p.H143P
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NHLRC2

NM_198514.4:p.H143P

Associated Papers

Case Report: Clinical manifestations and treatment of two Chinese patients with FINCA syndrome carrying a novel variant of NHLRC2.

Liu Y et al.

Frontiers in Pediatrics, 2024

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.

Sczakiel HL et al.

European Journal of Human Genetics : Ejhg, 2023

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

Tallgren A et al.

Frontiers in Neuroscience, 2023

Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.

Rapp CK et al.

Clinical Genetics, 2021

Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome.

Brodsky NN et al.

Journal of Human Genetics, 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."