Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.K551E
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PDE6A

NM_000440.3:p.K551E

Associated Papers

Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families.

Li Y et al.

Bmc Ophthalmology, 2022

Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families.

Dawood M et al.

International Journal of Ophthalmology, 2021

Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.

Wang L et al.

Genes, 2018

30029497 (PubMed )
Supplement: genes-09-00360-s001.zip › TableS2.xlsx › Sheet1
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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."