Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.R143L
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POU1F1

NM_000306.4:p.R143L

Associated Papers

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

Basic science and clinical research advances in the pituitary transcription factors: Pit-1 and Prop-1.

Kerr J et al.

Current Opinion in Endocrinology, Diabetes, and Obesity, 2008

Congenital thyrotropin deficiency--from discovery to molecular biology, postgenome and preventive medicine.

Miyai K

Endocrine Journal, 2007

The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism.

Kelberman D et al.

Annals of Medicine, 2006

Three novel mutations in POU1F1 in Israeli patients with combined pituitary hormone deficiency.

Gat-Yablonski G et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2005

Genetic defects in GH synthesis and secretion.

Bona G et al.

European Journal of Endocrinology, 2004

Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates.

McLennan K et al.

Clinical Endocrinology, 2003

[Molecular genetics of congenital isolated thyrotropin deficiency].

Miyai K

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1994

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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."