Varaico: Literature-Extracted Genetic Variants

Gene:FSHR
Variant:p.I374T
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FSHR

NM_000145.4:p.I374T

Associated Papers

Misfolded G Protein-Coupled Receptors and Endocrine Disease. Molecular Mechanisms and Therapeutic Prospects.

Ulloa-Aguirre A et al.

International Journal of Molecular Sciences, 2021

Loss-of-Function Mutations in the Human Luteinizing Hormone Receptor Predominantly Cause Intracellular Retention.

Newton CL et al.

Endocrinology, 2016

Alterations of the FSH and LH receptor genes and evaluation of sperm ultrastructure in men with idiopathic hypergonadotropic hypogonadism.

Collodel G et al.

Journal of Assisted Reproduction and Genetics, 2013

Mutations in human gonadotropin and gonadotropin-receptor genes.

Huhtaniemi IT et al.

Endocrine, 2005

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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."