Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.D201_D207del0
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PRPH2

NM_000322.5:p.D201_D207del0

Associated Papers

A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.

Avela K et al.

Acta Ophthalmologica, 2018

The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.

Sergouniotis PI et al.

Orphanet Journal of Rare Diseases, 2016

27628848 (PubMed )
Supplement: 13023_2016_505_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."