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    Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism
    2
    1. ClingenBaseline 21 Oct 2026
      in Baseline Annotations
      Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism

      PMID 30098700

      Variant ClinGen c.1165C>A p.Pro375Thr Gene:PAX6 inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
    2. ClingenBaseline 21 Oct 2026
      in Baseline Annotations
      Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism

      PMID 30098700

      Variant ClinGen c.1165C>A p.Pro375Thr Gene:PAX6 inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
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    Tags

    • inferred_gene_hgnc:8620
    • ClinGen
    • c.1165C>A p.Pro375Thr
    • Gene:PAX6
    • Variant
    • inferred_gene_source:Gene_Name
    • UNC Biocuration Core

    Annotators

    • ClingenBaseline

    URL

    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0015028218303352
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