Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.Q242R
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POU1F1

NM_000306.4:p.Q242R

Associated Papers

Genetic regulation of pituitary gland development in human and mouse.

Kelberman D et al.

Endocrine Reviews, 2009

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

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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."