Varaico: Literature-Extracted Genetic Variants

Gene:IFT140
Variant:p.R158W
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IFT140

NM_014714.4:p.R158W

Associated Papers

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.

Zobor D et al.

International Journal of Molecular Sciences, 2023

37240262 (PubMed )
Supplement: ijms-24-08915-s001.zip › ijms-2363585-supplementary.pdf

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.

Weisschuh N et al.

Plos One, 2016

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