Varaico: Literature-Extracted Genetic Variants

Gene:KERA
Variant:p.R313*
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KERA

NM_007035.4:p.R313*

Associated Papers

Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review.

Cronbach N et al.

Pharmaceuticals (basel, Switzerland), 2025

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

Sequence features, structure, ligand interaction, and diseases in small leucine rich repeat proteoglycans.

Matsushima N et al.

Journal of Cell Communication and Signaling, 2021

Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.

Roos L et al.

Bmc Medical Genetics, 2015

Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directions.

Al-Owain M et al.

American Journal of Medical Genetics. Part A, 2012

Corneal decompensation in recessive cornea plana.

Khan AO et al.

Ophthalmic Genetics, 2009

Recessive cornea plana in the Kingdom of Saudi Arabia.

Khan AO et al.

Ophthalmology, 2006

Corneal ectasia and hydrops in a patient with autosomal recessive cornea plana.

Khan AO et al.

Ophthalmic Genetics, 2006

A novel KERA mutation associated with autosomal recessive cornea plana.

Khan A et al.

Ophthalmic Genetics, 2004

Diagnostic accuracy of next generation sequencing-based genetic research for primary glaucoma: A systematic review and meta-analysis.

Liu Y et al.

Survey of Ophthalmology, 0

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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."