Varaico: Literature-Extracted Genetic Variants

Gene:SIX6
Variant:p.D183H
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SIX6

NM_007374.3:p.D183H

Associated Papers

Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.

Basharat R et al.

Experimental Eye Research, 2024

Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.

Panagiotou ES et al.

Molecular Vision, 2022

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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."