Varaico: Literature-Extracted Genetic Variants

Gene:COMP
Variant:p.C312_P314del0
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COMP

NM_000095.3:p.C312_P314del0

Associated Papers

Genetic variations in pseudoachondroplasia: a review of case reports.

Petryka L et al.

Laboratory Medicine, 2025

Two novel mutations of COMP in Japanese boys with pseudoachondroplasia.

Ichihashi Y et al.

Human Genome Variation, 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."