Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.E421_S422Splc
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PDE6A

NM_000440.3:p.E421_S422Splc

Associated Papers

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.

Munir A et al.

Bmc Ophthalmology, 2024

38317096 (PubMed )
Supplement: 12886_2024_3319_MOESM2_ESM.xlsx › Supplementary_Table_S2

The molecular basis of retinal dystrophies in pakistan.

Khan MI et al.

Genes, 2014

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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."