Varaico: Literature-Extracted Genetic Variants

Gene:PROP1
Variant:p.R104delFs
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PROP1

NM_006261.5:p.R104delFs

Associated Papers

Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency.

Almatrafi AM et al.

Medicina (kaunas, Lithuania), 2023

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

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."