Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.S517_P524delFs
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PMS2

NM_000535.7:p.S517_P524delFs

Associated Papers

Identification of pathogenic variants in six Chinese families with keratoconus of autosomal dominant inheritance: pathogenicity analysis and variable phenotype.

Huang X et al.

International Ophthalmology, 2025

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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."