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

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.

Zhang P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var

MSX1 mutations and associated disease phenotypes: genotype-phenotype relations.

Liang J et al.

European Journal of Human Genetics : Ejhg, 2016

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