Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.E93*
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BMP4

NM_001202.6:p.E93*

Associated Papers

Novel Variant in Exon 3 of the BMP4 Gene Resulted in Ectopic Posterior Pituitary, Craniocervical Junction Dysmorphism and Limb Anomaly.

Calcaterra V et al.

Case Reports in Pediatrics, 2022

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

Fang Q et al.

Endocrine Reviews, 2016

SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.

Mauri L et al.

European Journal of Medical Genetics, 2015

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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."