Varaico: Literature-Extracted Genetic Variants

Gene:MSX1
Variant:p.R157Splc
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MSX1

NM_002448.3:p.R157Splc

Associated Papers

Novel MSX1 Gene Variants in Chinese Children with Non-Syndromic Tooth Agenesis: A Clinical and Genetic Analysis.

Ding T et al.

Children (basel, Switzerland), 2024

39767847 (PubMed )
Supplement: children-11-01418-s001.zip › Supplement_Table_S1.xlsx › Sheet1

Orodental malformations associated with human MSX1 sequence variants.

Wang YL et al.

Journal of the American Dental Association (1939), 2024

Characterization of novel MSX1 variants causally associated with non-syndromic oligodontia in Chinese families.

Zhao Y et al.

Molecular Genetics & Genomic Medicine, 2024

38069551 (PubMed )
Supplement: MGG3-12-e2334-s002.xls › Sheet1

Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene: A case report and a review of the literature.

Zhang W et al.

Medicine, 2017

A novel MSX1 intronic mutation associated with autosomal dominant non-syndromic oligodontia in a large Chinese family pedigree.

Xue J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 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."