Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC2
Variant:p.R201delFs
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NHLRC2

NM_198514.4:p.R201delFs

Associated Papers

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

Tallgren A et al.

Frontiers in Neuroscience, 2023

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

Paakkola T et al.

Human Molecular Genetics, 2018

NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.

Uusimaa J et al.

Acta Neuropathologica, 2018

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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."