Varaico: Literature-Extracted Genetic Variants

Gene:BMP7
Variant:p.E221K
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BMP7

NM_001719.3:p.E221K

Associated Papers

Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.

Ahram DF et al.

Journal of the American Society of Nephrology : Jasn, 2023

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

Hwang DY et al.

Kidney International, 2014

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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."