Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.A42P
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BMP4

NM_001202.6:p.A42P

Associated Papers

Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses.

Kantaputra PN et al.

Clinical Genetics, 2022

Whole Exome Sequencing Points towards a Multi-Gene Synergistic Action in the Pathogenesis of Congenital Combined Pituitary Hormone Deficiency.

Sertedaki A et al.

Cells, 2022

Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.

Green DJ et al.

Genes, 2020

32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal

BMP4 mutations in tooth agenesis and low bone mass.

Yu M et al.

Archives of Oral Biology, 2019

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST2

Functional evaluation of a novel tooth agenesis-associated bone morphogenetic protein 4 prodomain mutation.

Huang Y et al.

European Journal of Oral Sciences, 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."