Varaico: Literature-Extracted Genetic Variants

Gene:CPAMD8
Variant:p.Q1513fs
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CPAMD8

NM_015692.5:p.Q1513fs

Associated Papers

Compound Heterozygous Variants of the CPAMD8 Gene Co-Segregating in Two Chinese Pedigrees With Pigment Dispersion Syndrome/Pigmentary Glaucoma.

Tan J et al.

Frontiers in Genetics, 2022

Revealing hidden genetic diagnoses in the ocular anterior segment disorders.

Ma A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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."