Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.I244S
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POU1F1

NM_000306.4:p.I244S

Associated Papers

POU1F1 mutations in combined pituitary hormone deficiency: differing spectrum of mutations in a Western-Indian cohort and systematic analysis of world literature.

Jadhav S et al.

Pituitary, 2021

Precocious or early puberty in patients with combined pituitary hormone deficiency due to POU1F1 gene mutation: case report and review of possible mechanisms.

Baş F et al.

Hormones (athens, Greece), 2018

Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.

Baş F et al.

Endocrine, 2015

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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."