Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.F233L
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POU1F1

NM_000306.4:p.F233L

Associated Papers

Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature.

Chen WY et al.

Molecular Genetics and Metabolism Reports, 2021

Congenital hypopituitarism due to POU1F1 gene mutation.

Lee NC et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2011

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

Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia.

Rainbow LA et al.

Clinical Endocrinology, 2005

[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."