Varaico: Literature-Extracted Genetic Variants

Gene:MASP1
Variant:p.K254*
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MASP1

NM_139125.4:p.K254*

Associated Papers

Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel MASP1 Pathogenic Variant in a Male Patient.

Agaoglu NB et al.

Molecular Syndromology, 2021

Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome.

Gajek G et al.

International Journal of Molecular Sciences, 2020

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.

Urquhart J et al.

American Journal of Medical Genetics. Part A, 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."