Varaico: Literature-Extracted Genetic Variants

Gene:CNTLN
Variant:p.H76Y
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CNTLN

NM_017738.4:p.H76Y

Associated Papers

Genetic and Clinical Analyses of the KIZ-c.226C>T Variant Resulting in a Dual Mutational Mechanism.

Sundaresan Y et al.

Genes, 2024

Progressive RPE atrophy and photoreceptor death in KIZ-associated autosomal recessive retinitis pigmentosa.

Lin Y et al.

Ophthalmic Genetics, 2020

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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."