Varaico: Literature-Extracted Genetic Variants

Gene:PRDM5
Variant:p.C325fs
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PRDM5

NM_018699.4:p.C325fs

Associated Papers

A case of massive hematoma: reflections on hypermobile Ehlers-Danlos syndrome.

Liu Q et al.

Frontiers in Medicine, 2025

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

Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.

Gensemer C et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2021

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

Micheal S et al.

Cornea, 2016

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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."