Associated Papers
Predicted mechanistic impacts of human protein missense variants.
Jänes J et al.
Biorxiv : the Preprint Server for Biology, 2024
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.
Gonçalves C et al.
Fertility and Sterility, 2015
Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.
Semple RK et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
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