Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.N150K
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BMP4

NM_001202.6:p.N150K

Associated Papers

Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.

He Q et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1

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

Kantaputra PN et al.

Clinical Genetics, 2022

Genetics of otosclerosis: finally catching up with other complex traits?

Tavernier LJM et al.

Human Genetics, 2022

Robo2 and Gen1 Coregulate Ureteric Budding by Activating the MAPK/ERK Signaling Pathway in Mice.

Li Y et al.

Frontiers in Medicine, 2021

HNF1A is a novel oncogene that regulates human pancreatic cancer stem cell properties.

Abel EV et al.

Elife, 2018

Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma.

Huang X et al.

International Journal of Molecular Medicine, 2015

Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling.

Ealy M et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2014

Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia.

Schild R et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013

Functional analysis of BMP4 mutations identified in pediatric CAKUT patients.

Tabatabaeifar M et al.

Pediatric Nephrology (berlin, Germany), 2009

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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."