Varaico: Literature-Extracted Genetic Variants

Gene:RPGRIP1L
Variant:p.L447S
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RPGRIP1L

NM_015272.5:p.L447S

Associated Papers

Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy.

Aghamir SMK et al.

Genes, 2023

37372431 (PubMed )
Supplement: genes-14-01251-s001.zip › HGV__2.xlsx › _2

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Watson CM et al.

Plos One, 2014

25133751 (PubMed )
Supplement: pone.0104281.s001.pdf

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

Khanna H et al.

Nature Genetics, 2009

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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."