Varaico: Literature-Extracted Genetic Variants

Gene:BMP7
Variant:p.N321S
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BMP7

NM_001719.3:p.N321S

Associated Papers

Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.

D'Agostino Y et al.

Diagnostics (basel, Switzerland), 2022

36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1

Deciphering the mutation spectrum in south Indian children with congenital anomalies of the kidney and urinary tract.

Narikot A et al.

Bmc Nephrology, 2022

34979951 (PubMed )
Supplement: 12882_2021_2628_MOESM2_ESM.xlsx › Table_S4

Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux.

Bartik ZI et al.

Plos One, 2022

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

Bekheirnia MR et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27657687 (PubMed )
Supplement: NIHMS807719-supplement-Table_S2_S3.xlsx › Table_S2

Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies.

Wyatt AW et al.

Human Mutation, 2010

Investigation of the association of BMP gene variants with nephropathy in Type 1 diabetes mellitus.

McKnight AJ et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2010

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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."