Varaico: Literature-Extracted Genetic Variants

Gene:PDE6B
Variant:p.M710Splc
Back to variants list

PDE6B

NM_000283.4:p.M710Splc

Associated Papers

Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.

Rowlands C et al.

Scientific Reports, 2021

34663891 (PubMed )
Supplement: 41598_2021_99747_MOESM2_ESM.xlsx › Table-S1-modified

Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.

Singh HP et al.

Investigative Ophthalmology & Visual Science, 2009

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."