Varaico: Literature-Extracted Genetic Variants

Gene:KERA
Variant:p.P70L
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KERA

NM_007035.4:p.P70L

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

Novel variants in the KERA gene cause autosomal recessive cornea plana in a Chinese family: A case report.

Huang C et al.

Molecular Medicine Reports, 2019

Analysis of KERA in four families with cornea plana identifies two novel mutations.

Dudakova L et al.

Acta Ophthalmologica, 2018

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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."