Varaico: Literature-Extracted Genetic Variants

Gene:MGP
Variant:p.N32Splc
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MGP

NM_000900.5:p.N32Splc

Associated Papers

Keutel Syndrome, a Review of 50 Years of Literature.

Cancela ML et al.

Frontiers in Cell and Developmental Biology, 2021

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Maddirevula S et al.

Genome Biology, 2020

32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM3_ESM.xlsx › Table_S2

A Novel MGP Gene Mutation Causing Keutel Syndrome in a Brazilian Patient.

Perrone E et al.

Molecular Syndromology, 2018

Long term follow-up of four patients with Keutel syndrome.

Khosroshahi HE et al.

American Journal of Medical Genetics. Part A, 2014

Neuroimaging findings in children with Keutel syndrome.

Bosemani T et al.

Pediatric Radiology, 2014

Circulating matrix γ-carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome.

Cranenburg EC et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome.

Hur DJ et al.

American Journal of Medical Genetics. Part A, 2005

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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."