Varaico: Literature-Extracted Genetic Variants

Gene:LHX3
Variant:p.T194R
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LHX3

NM_178138.6:p.T194R

Associated Papers

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

Cell-specific actions of a human LHX3 gene enhancer during pituitary and spinal cord development.

Park S et al.

Molecular Endocrinology (baltimore, Md.), 2013

Developmental analysis and influence of genetic background on the Lhx3 W227ter mouse model of combined pituitary hormone deficiency disease.

Prince KL et al.

Endocrinology, 2013

A recessive mutation resulting in a disabling amino acid substitution (T194R) in the LHX3 homeodomain causes combined pituitary hormone deficiency.

Bechtold-Dalla Pozza S et al.

Hormone Research in Paediatrics, 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."