Varaico: Literature-Extracted Genetic Variants

Gene:CPAMD8
Variant:p.Y1451H
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CPAMD8

NM_015692.5:p.Y1451H

Associated Papers

Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.

Bell S et al.

Genes, 2021

Morgagnian cataract resulting from a naturally occurring nonsense mutation elucidates a role of CPAMD8 in mammalian lens development.

Hollmann AK et al.

Plos One, 2017

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.

Cheong SS et al.

American Journal of Human Genetics, 2016

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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."