Varaico: Literature-Extracted Genetic Variants

Gene:PDE6H
Variant:p.E67*
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PDE6H

NM_006205.3:p.E67*

Associated Papers

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.

Zhu J et al.

Genes, 2022

35456422 (PubMed )
Supplement: genes-13-00615-s001.zip › genes-1600529-supplementary.pdf
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