Varaico: Literature-Extracted Genetic Variants

Gene:PROP1
Variant:p.R125W
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PROP1

NM_006261.5:p.R125W

Associated Papers

Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.

Cain B et al.

Biorxiv : the Preprint Server for Biology, 2025

41279221 (PubMed )
Supplement: media-2.xlsx › SuppTable2

Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery.

Correa FA et al.

Archives of Endocrinology and Metabolism, 2019

Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.

Madeira JL et al.

Clinical Endocrinology, 2017

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

Fang Q et al.

Endocrine Reviews, 2016

Genetic regulation of pituitary gland development in human and mouse.

Kelberman D et al.

Endocrine Reviews, 2009

Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).

Kelberman D et al.

Clinical Endocrinology, 2009

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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."