Varaico: Literature-Extracted Genetic Variants

Gene:MMP17
Variant:p.D529N
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MMP17

NM_016155.7:p.D529N

Associated Papers

Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila.

Thorpe HJ et al.

American Journal of Human Genetics, 2025

Identification of CNTN2 as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in Drosophila.

Thorpe HJ et al.

Biorxiv : the Preprint Server for Biology, 2024

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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."