Varaico: Literature-Extracted Genetic Variants

Gene:ZNF469
Variant:p.R3369P
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ZNF469

NM_001367624.2:p.R3369P

Associated Papers

The transcription factor ZNF469 regulates collagen production in liver fibrosis.

Steinhauser S et al.

Biorxiv : the Preprint Server for Biology, 2024

38712281 (PubMed )
Supplement: media-8.xlsx › Hs_ZNF469_protein_feautures

A novel homozygous ZNF469 variant causing brittle cornea syndrome is associated with corneal ectasias in heterozygous carriers.

Arce-González R et al.

International Ophthalmology, 2023

A mouse model of brittle cornea syndrome caused by mutation in Zfp469.

Stanton CM et al.

Disease Models & Mechanisms, 2021

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

Dhooge T et al.

Human Mutation, 2021

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

Rohrbach M et al.

Molecular Genetics and Metabolism, 2013

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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."