Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.A334D
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BMP4

NM_001202.6:p.A334D

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

Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.

Vishnopolska SA et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.

Zwaveling-Soonawala N et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

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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."