Varaico: Literature-Extracted Genetic Variants

Gene:PRDM5
Variant:p.V6G
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PRDM5

NM_018699.4:p.V6G

Associated Papers

Brittle cornea syndrome: A novel mutation.

Geng X et al.

Heliyon, 2024

Homozygous Val6Gly Variation in PRDM5 Gene Causing Brittle Cornea Syndrome: A New Turkish Case.

Sanrı A et al.

Molecular Syndromology, 2023

Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature.

Avgitidou G et al.

Case Reports in Ophthalmological Medicine, 2015

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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."