Varaico: Literature-Extracted Genetic Variants

Gene:CERKL
Variant:p.L133_K134delFs
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CERKL

NM_201548.5:p.L133_K134delFs

Associated Papers

Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa.

Wawrocka A et al.

Diagnostics (basel, Switzerland), 2023

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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."