Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.R174_V175Splc
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RS1

NM_000330.4:p.R174_V175Splc

Associated Papers

Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes.

Basdemirci M et al.

Molecular Syndromology, 2024

Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.

Green DJ et al.

Genes, 2020

32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_X-linked
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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."