Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.R143*
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POU1F1

NM_000306.4:p.R143*

Associated Papers

Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature.

Chen WY et al.

Molecular Genetics and Metabolism Reports, 2021

Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.

Blum WF et al.

Ebiomedicine, 2018

Analysis of genetic variations across regulatory and coding regions of kappa-casein gene of Indian native cattle (Bos indicus) and buffalo (Bubalus bubalis).

Kishore A et al.

Meta Gene, 2014

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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."