Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.G427R
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SHH

NM_000193.4:p.G427R

Associated Papers

Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.

Vodicska B et al.

World Journal of Pediatrics : Wjp, 2023

36914906 (PubMed )
Supplement: 12519_2023_700_MOESM1_ESM.xlsx › Driver_list

The genetic background of hydrocephalus in a population-based cohort: implication of ciliary involvement.

Munch TN et al.

Brain Communications, 2023

36694575 (PubMed )
Supplement: fcad004_supplementary_data.docx

Pituitary Stalk Interruption Syndrome: From Clinical Findings to Pathogenesis.

Wang CZ et al.

Journal of Neuroendocrinology, 2017

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

Fang Q et al.

Endocrine Reviews, 2016

MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency.

Castinetti F et al.

European Journal of Endocrinology, 2016

Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects.

Paulo SS et al.

Clinical Endocrinology, 2015

Pituitary stalk interruption syndrome and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genes.

Tatsi C et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

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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."