Varaico: Literature-Extracted Genetic Variants

Gene:MGP
Variant:p.E21Splc
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MGP

NM_000900.5:p.E21Splc

Associated Papers

Keutel Syndrome, a Review of 50 Years of Literature.

Cancela ML et al.

Frontiers in Cell and Developmental Biology, 2021

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

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

Perrone E et al.

Molecular Syndromology, 2018

CLINICAL VARIABILITY IN TWO SISTERS WITH KEUTEL SYNDROME DUE TO A HOMOZYGOUS MUTATION IN MGP GENE.

Tüysüz B et al.

Genetic Counseling (geneva, Switzerland), 2015

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

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome.

Munroe PB et al.

Nature Genetics, 1999

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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."