Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.A158del1
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POU1F1

NM_000306.4:p.A158del1

Associated Papers

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 caused by compound heterozygosity for two novel mutations in the POU domain of the Pit1/POU1F1 gene.

Hendriks-Stegeman BI et al.

The Journal of Clinical Endocrinology and Metabolism, 2001

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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."