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Results for the Protein: O60258
6015147

FGF17_HUMAN RecName: Full=Fibroblast growth factor 17; Short=FGF-17; Flags: Precursor

Known Diseases associated with this Protein:
  HYPOGONADOTROPIC HYPOGONADISM 20 WITH ANOSMIA
  HYPOGONADOTROPIC HYPOGONADISM 20 WITH ANOSMIA, SUSCEPTIBILITY TO
  HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA (HH20)
  HYPOGONADOTROPIC HYPOGONADISM 20 WITHOUT ANOSMIA
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FGF - smart00442


Swiss-Prot Protein: O60258
Identical to: NP_003858
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069948Diseasep.ARG177HISHypogonadotropic hypogonadism 20 with or without anosmia (HH20)
Swiss-ProtVAR_069949Diseasep.ASN187SERHypogonadotropic hypogonadism 20 with or without anosmia (HH20)
Swiss-ProtVAR_069947Diseasep.ILE108THRHypogonadotropic hypogonadism 20 with or without anosmia (HH20)
OMIM603725.0002 Diseasep.ARG177HISHYPOGONADOTROPIC HYPOGONADISM 20 WITHOUT ANOSMIA
OMIM603725.0003 Diseasep.ASN187SERHYPOGONADOTROPIC HYPOGONADISM 20 WITH ANOSMIA
OMIM603725.0001 Diseasep.ILE108THRHYPOGONADOTROPIC HYPOGONADISM 20 WITH ANOSMIA, SUSCEPTIBILITY TO



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