Varaico: Literature-Extracted Genetic Variants

Gene:FSHR
Variant:p.I185L
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FSHR

NM_000145.4:p.I185L

Associated Papers

TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.

Cangul H et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012

Genetics and phenomics of hypothyroidism due to TSH resistance.

Persani L et al.

Molecular and Cellular Endocrinology, 2010

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

Tao YX

Pharmacology & Therapeutics, 2006

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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."