Associated Papers
Functional Validation and Phenotypic Spectrum of Splice-Site Variants in CHD7, FGFR1, and ANOS1 in Congenital Hypogonadotropic Hypogonadism.
Li Y et al.
Clinical Genetics, 2025
Upregulation of FGFR1 expression is associated with parathyroid carcinogenesis in HPT-JT syndrome due to an HRPT2 splicing mutation.
Lee JY et al.
International Journal of Oncology, 2014
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