Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.W193insFs
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POU1F1

NM_000306.4:p.W193insFs

Associated Papers

OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary.

Tajima T et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

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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."