Varaico: Literature-Extracted Genetic Variants

Gene:PROP1
Variant:p.T181A
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PROP1

NM_006261.5:p.T181A

Associated Papers

Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.

Vishnopolska SA et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.

Jullien N et al.

Clinical Endocrinology, 2021

Identification of SNPs within the sheep PROP1 gene and their effects on wool traits.

Zeng XC et al.

Molecular Biology Reports, 2011

Comparative genomics reveals functional transcriptional control sequences in the Prop1 gene.

Ward RD et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2007

Pituitary hormone deficiencies due to transcription factor gene alterations.

Reynaud R et al.

Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2004

An outline of inherited disorders of the thyroid hormone generating system.

Knobel M et al.

Thyroid : Official Journal of the American Thyroid Association, 2003

Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.

Tajima T et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

Thomas PQ et al.

Human Molecular Genetics, 2001

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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."