Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.E256del1
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POU1F1

NM_000306.4:p.E256del1

Associated Papers

[Clinical and genetic analysis of an infant with combined pituitary hormone deficiency due to POU1F1 gene variants].

Li Q et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020

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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."