Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.R251G
Back to variants list

RP2

NM_006915.3:p.R251G

Associated Papers

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

Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.

Wang H et al.

Investigative Ophthalmology & Visual Science, 2015

The role of the interactome in the maintenance of deleterious variability in human populations.

Garcia-Alonso L et al.

Molecular Systems Biology, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."