Varaico: Literature-Extracted Genetic Variants

Gene:PRDM5
Variant:p.V238fs
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PRDM5

NM_018699.4:p.V238fs

Associated Papers

Brittle cornea syndrome: A novel mutation.

Geng X et al.

Heliyon, 2024

More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.

Dhooge T et al.

Human Mutation, 2021

Case report of a PRDM5 linked brittle cornea syndrome type 2 in association with a novel SLC6A5 mutation.

Selina A et al.

Indian Journal of Ophthalmology, 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."