Varaico: Literature-Extracted Genetic Variants

Gene:BMP7
Variant:p.C363Y
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BMP7

NM_001719.3:p.C363Y

Associated Papers

Endoglin mutants retained in the endoplasmic reticulum exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type allele.

Gariballa N et al.

Traffic (copenhagen, Denmark), 2024

Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function.

Paquet ME et al.

Human Molecular Genetics, 2001

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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."