Varaico: Literature-Extracted Genetic Variants

Gene:SOX2
Variant:p.R271W
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SOX2

NM_003106.4:p.R271W

Associated Papers

Advances in differential diagnosis and management of growth hormone deficiency in children.

Hage C et al.

Nature Reviews. Endocrinology, 2021

Congenital Hypopituitarism: Various Genes, Various Phenotypes.

Xatzipsalti M et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2019

Pituitary Transcription Factor Mutations Leading to Hypopituitarism.

Gergics P

Experientia Supplementum (2012), 2019

Genetic regulation of pituitary gland development in human and mouse.

Kelberman D et al.

Endocrine Reviews, 2009

Developmental disorders of the hypothalamus and pituitary gland associated with congenital hypopituitarism.

Mehta A et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2008

Hypopituitarism oddities: congenital causes.

Kelberman D et al.

Hormone Research, 2007

The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism.

Kelberman D et al.

Annals of Medicine, 2006

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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."