Varaico: Literature-Extracted Genetic Variants

Gene:LHX3
Variant:p.K89Splc
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LHX3

NM_014564.5:p.K89Splc

Associated Papers

The Molecular Basis of Congenital Hypopituitarism and Related Disorders.

Gregory LC et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency.

Jullien N et al.

European Journal of Human Genetics : Ejhg, 2019

Pituitary Transcription Factor Mutations Leading to Hypopituitarism.

Gergics P

Experientia Supplementum (2012), 2019

Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss.

Ramzan K et al.

Bmc Endocrine Disorders, 2017

Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations.

Sobrier ML et al.

The Journal of Clinical Endocrinology and Metabolism, 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."