Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.A268V
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SHH

NM_000193.4:p.A268V

Associated Papers

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

Fang Q et al.

Endocrine Reviews, 2016

The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism.

Gregory LC et al.

Clinical Endocrinology, 2015

Clinical findings in patients with GLI2 mutations--phenotypic variability.

Bertolacini CD et al.

Clinical Genetics, 2012

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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."