Varaico: Literature-Extracted Genetic Variants

Gene:CERKL
Variant:p.I205Splc
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CERKL

NM_201548.5:p.I205Splc

Associated Papers

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.

Kiel C et al.

Scientific Reports, 2024

39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › solved_patients

CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History.

Daich Varela M et al.

Ophthalmology. Retina, 2023

37331655 (PubMed )
Supplement: mmc1.pdf
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