Varaico: Literature-Extracted Genetic Variants

Gene:WDR11
Variant:p.I436V
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WDR11

NM_018117.12:p.I436V

Associated Papers

Re-analysis of gene mutations found in pituitary stalk interruption syndrome and a new hypothesis on the etiology.

Wang S et al.

Frontiers in Endocrinology, 2024

PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency

Kardelen AD et al.

Journal of Clinical Research in Pediatric Endocrinology, 2023

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.

Brauner R et al.

Plos One, 2020

DIAGNOSIS OF ENDOCRINE DISEASE: Pituitary stalk interruption syndrome: etiology and clinical manifestations.

Vergier J et al.

European Journal of Endocrinology, 2019

Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.

McCormack SE et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

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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."