Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.T194fs
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POU1F1

NM_001122757.3:p.T194fs

Associated Papers

Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation.

Majdoub H et al.

Frontiers in Endocrinology, 2019

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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."