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5 results
  1. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... have particularly low levels of a protein called complement component 3 (or C3) in the blood.</html:p><html: ... synonym-list ><synonym >C3 inactivator deficiency</synonym><synonym >Complement component 3 inactivator deficiency</synonym><synonym >Hereditary factor I deficiency ...
  2. Genetics of Kidney Cancer (Renal Cell Cancer) (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK169222
    ... dominant syndrome; inheritance of a single variant FH allele predisposes the individual to develop manifestations of the ... point mutations (variants) in the wild-type FLCN allele and loss of heterozygosity at chromosome 17p have ...
  3. Genetics of Colorectal Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK126744
    ... Trzepacz C, Tuohy TM, et al.: Attenuated APC alleles produce functional protein from internal translation initiation. Proc ... tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor. Cancer ...
  4. von Willebrand Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK7014
    ... for alloantibody development, although some with other null alleles have also been reported to develop this complication [ ... results from homozygosity or compound heterozygosity for null alleles, but also a small proportion of missense variants. ...
  5. Excluded Studies - Interventions Targeting Sensory Challenges in Children With Autism Spectrum Disorder—An Update - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK448045
    ... dopamine D(2) receptor gene and common CYP2D6 alleles on prolactin levels in risperidone-treated boys. Pharmacogenet ... The Relationship of HLA Class I and II Alleles and Haplotypes with Autism: A Case Control Study. ...