Varaico: Literature-Extracted Genetic Variants

Gene:MSX1
Variant:p.R157S
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MSX1

NM_002448.3:p.R157S

Associated Papers

PRMT1-methylated MSX1 phase separates to control palate development.

Meng L et al.

Nature Communications, 2025

Current insights on the genetics and mechanisms of MSX1-associated cleft palate.

Myo AC et al.

Frontiers in Dental Medicine, 2025

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides

Orodental malformations associated with human MSX1 sequence variants.

Wang YL et al.

Journal of the American Dental Association (1939), 2024

Genetic analysis of transcription factors in dopaminergic neuronal development in Parkinson's disease.

Zhao Y et al.

Chinese Medical Journal, 2024

37341647 (PubMed )
Supplement: cm9-137-450-s001.pdf

Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndrome.

Niitsuma S et al.

International Immunology, 2020

Two novel mutations in MSX1 causing oligodontia.

Yang L et al.

Plos One, 2020

31914153 (PubMed )
Supplement: pone.0227287.s007.docx

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

Liang J et al.

European Journal of Human Genetics : Ejhg, 2016

Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate.

Leslie EJ et al.

Clinical Genetics, 2013

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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."