Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.V220delFs
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GPR143

NM_000273.3:p.V220delFs

Associated Papers

Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus.

Wang XF et al.

Frontiers in Cell and Developmental Biology, 2021

33732697 (PubMed )
Supplement: Table_1.XLSX › Sheet1

Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.

AlMoallem B et al.

Investigative Ophthalmology & Visual Science, 2015

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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."