Varaico: Literature-Extracted Genetic Variants

Gene:KERA
Variant:p.Q174*
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KERA

NM_007035.4:p.Q174*

Associated Papers

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

Proteoglycan form and function: A comprehensive nomenclature of proteoglycans.

Iozzo RV et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2015

Mutations in KERA, encoding keratocan, cause cornea plana.

Pellegata NS et al.

Nature Genetics, 2000

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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."