Varaico: Literature-Extracted Genetic Variants

Gene:FSHR
Variant:p.L502P
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FSHR

NM_000145.4:p.L502P

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

Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.

Tao YX

Pharmacology & Therapeutics, 2006

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."