Varaico: Literature-Extracted Genetic Variants

Gene:RLBP1
Variant:p.Q228_D229Splc
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RLBP1

NM_000326.5:p.Q228_D229Splc

Associated Papers

Fundus Albipunctatus Associated with Biallelic LRAT Gene Mutation: A Case Report with Long-Term Follow-Up.

Tan WD et al.

Journal of Clinical Medicine, 2023

A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.

Ezquerra-Inchausti M et al.

Scientific Reports, 2018

30337596 (PubMed )
Supplement: 41598_2018_33810_MOESM1_ESM.pdf
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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."