Varaico: Literature-Extracted Genetic Variants

Gene:LHX4
Variant:p.A65V
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LHX4

NM_033343.4:p.A65V

Associated Papers

Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.

Kırkgöz T et al.

Archives of Endocrinology and Metabolism, 2023

A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2.

Hemwong N et al.

Journal of Advanced Research, 2020

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.

Cohen E et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

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

Fang Q et al.

Endocrine Reviews, 2016

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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."