Varaico: Literature-Extracted Genetic Variants

Gene:PDE6D
Variant:p.L123fs
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PDE6D

NM_002601.4:p.L123fs

Associated Papers

A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).

Mégarbané A et al.

European Journal of Medical Genetics, 2019

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Nair P et al.

Molecular Genetics & Genomic Medicine, 2018

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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."