Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.A202Splc
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POU1F1

NM_000306.4:p.A202Splc

Associated Papers

Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation.

Majdoub H et al.

Frontiers in Endocrinology, 2019

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

Fang Q et al.

Endocrine Reviews, 2016

A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood.

Tenenbaum-Rakover Y et al.

Clinical Endocrinology, 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

A novel germline mutation, IVS4+1G>A, of the POU1F1 gene underlying combined pituitary hormone deficiency.

Snabboon T et al.

Hormone Research, 2008

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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."