PMID-sentid Pub_year Sent_text compound_name comp_offset prot_official_name organism prot_offset 19820032-13 2009 CONCLUSIONS: Loss-of-function mutations in FGFR1 underlie 7% of nIHH with different degrees of impairment in vitro. nihh 64-68 fibroblast growth factor receptor 1 Homo sapiens 43-48 32485746-2 2021 FGFR1 mutations have been identified in 3-10% of patients with KS or nIHH. nihh 69-73 fibroblast growth factor receptor 1 Homo sapiens 0-5 25180599-8 2014 A three-nucleotide in frame deletion was identified in the NPVF gene (p.I71_K72), with a smaller proportion in the CPP (5%) compared to the nIHH (15%) group (P = 0.06). nihh 140-144 neuropeptide VF precursor Homo sapiens 59-63 33299522-3 2020 FGFR1 variants are found in less than 10% of patients with KS and nIHH, and among them, only some have undergone functional analysis. nihh 66-70 fibroblast growth factor receptor 1 Homo sapiens 0-5 24476074-4 2014 The coding region of AXL was sequenced in 104 unrelated, carefully phenotyped KS or nIHH subjects. nihh 84-88 AXL receptor tyrosine kinase Mus musculus 21-24 17959774-7 2007 Two brothers with KS and their sister with nIHH harbored a homozygous deletion in the PROK2 gene (p.[I55fsX1]+[I55fsX1]). nihh 43-47 prokineticin 2 Mus musculus 86-91 17959774-11 2007 Homozygous loss-of-function PROK2 mutations cause both KS and nIHH. nihh 62-66 prokineticin 2 Mus musculus 28-33