Varaico: Literature-Extracted Genetic Variants

Gene:PRDM5
Variant:p.K31_G32Splc
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PRDM5

NM_018699.4:p.K31_G32Splc

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

Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome.

Micheal S et al.

Cornea, 2019

Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome.

Micheal S et al.

Cornea, 2016

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