Associated Papers
Saturation mutagenesis identifies activating and resistance-inducing FGFR kinase domain mutations.
Tangermann C et al.
Nature Genetics, 2026
41361008 (PubMed )
Supplement: 41588_2025_2431_MOESM3_ESM.xlsx › S10_Screen_data_table
A rare combination of hypogonadotropic hypogonadism, GH deficiency and rectal atresia in a female with an FGFR1 variant: a case report and systematic review of the literature.
Alexandraki KI et al.
Endocrine, 2025
Involvement of a Novel Variant of FGFR1 Detected in an Adult Patient with Kallmann Syndrome in Regulation of Gonadal Steroidogenesis.
Soejima Y et al.
International Journal of Molecular Sciences, 2025
A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly.
Uchida N et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2023
Mutations on the external surfaces of adeno-associated virus type 2 capsids that affect transduction and neutralization.
Lochrie MA et al.
Journal of Virology, 2006
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