Varaico: Literature-Extracted Genetic Variants

Gene:CPAMD8
Variant:p.Q1518*
Back to variants list

CPAMD8

NM_015692.5:p.Q1518*

Associated Papers

Biallelic CPAMD8 variants in a patient with ectopia lentis associated with extraocular systemic features reminiscent of Marfan syndrome.

Oba D et al.

Human Genome Variation, 2025

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."