Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.R143G
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POU1F1

NM_000306.4:p.R143G

Associated Papers

The role of CBP/p300 interactions and Pit-1 dimerization in the pathophysiological mechanism of combined pituitary hormone deficiency.

Cohen RN et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

Severe congenital hypopituitarism with low prolactin levels and age-dependent anterior pituitary hypoplasia: a clue to a PIT-1 mutation.

Ward L et al.

The Journal of Pediatrics, 1998

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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."