Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.W265*
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BMP4

NM_001202.6:p.W265*

Associated Papers

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

Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency.

Rodríguez-Contreras FJ et al.

American Journal of Medical Genetics. Part A, 2019

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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."