Varaico: Literature-Extracted Genetic Variants

Gene:PROP1
Variant:p.R121T
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PROP1

NM_006261.5:p.R121T

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

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

Almatrafi AM et al.

Medicina (kaunas, Lithuania), 2023

Genetic analysis of adult Slovenian patients with combined pituitary hormone deficiency.

Bajuk Studen K et al.

Endocrine, 2019

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

Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency.

Avbelj Stefanija M et al.

Hormone Research in Paediatrics, 2015

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