Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC2
Variant:p.R201fs
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NHLRC2

NM_198514.4:p.R201fs

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

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

Rapp CK et al.

Clinical Genetics, 2021

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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."