Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.F233S
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POU1F1

NM_000306.4:p.F233S

Associated Papers

Functional Properties of POU1F1 Mutants in the Transcriptional Regulation of the Thyrotropin β Gene Compared with the Prolactin Gene.

Kawauchi Y et al.

International Journal of Molecular Sciences, 2025

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

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

Fang Q et al.

Endocrine Reviews, 2016

Congenital hypopituitarism due to POU1F1 gene mutation.

Lee NC et al.

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

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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."