Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.L575P
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PDE6A

NM_000440.3:p.L575P

Associated Papers

Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.

Maltese PE et al.

Frontiers in Genetics, 2022

35836572 (PubMed )
Supplement: Table1.xlsx › Table_S3_America

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

Dawood M et al.

International Journal of Ophthalmology, 2021

Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.

Khateb S et al.

Jama Ophthalmology, 2019

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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."