Varaico: Literature-Extracted Genetic Variants

Gene:CERKL
Variant:p.E254*
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CERKL

NM_201548.5:p.E254*

Associated Papers

Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.

Heutinck PAT et al.

Scientific Reports, 2025

RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.

Trastulli G et al.

Genes, 2024

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