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65 results
  1. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... rab23</url></topic><topic ><title >RAB27A: RAB27A, member RAS oncogene family</title><url >https://medlineplus.gov/genetics/gene/rab27a</url></topic><topic ><title >RAB3GAP1: RAB3 GTPase activating protein catalytic subunit 1</title><url >https://medlineplus. ...
  2. RAB18 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK475670
    ... RAB3GAP1 database RAB3GAP1 RAB3GAP1 RAB3GAP2 1q41 Rab3 GTPase-activating protein ... are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein from ...
  3. Capillary Malformation-Arteriovenous Malformation Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK52764
    ... Syndrome: Genes and Databases View in own window Gene Chromosome Locus Protein ... - LOVD RASA1base: Database for pathogenic mutations in the RasGAP SH2 domain Vascular Anomaly and ...
  4. Childhood Astrocytomas Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65944
    ... glioma (10 of 167 cases).[ 30 ] Other mutations Activating mutations in FGFR1 , PTPN11 , and in NTRK2 fusion genes ... gliomas Angiocentric ...
  5. HRAS gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/hras
    ... become cancerous. The HRAS gene is in the Ras family of oncogenes, which also includes ... syndrome At least 15 mutations in the HRAS gene have been identified in ...
  6. Gastrointestinal stromal tumor: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/gastrointestinal-stromal-tumor
    ... B, Belghiti J, Schiffmann S, Hirota S, Vanderwinden JM. Germline-activating mutation ... RH, den Bakker MA, Oldenburg RA, van Loon RL, O'Sullivan MJ, de Krijger ...
  7. Spondylocostal Dysostosis, Autosomal Recessive - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK8828
    ... SL, Clements M, Sparrow DB, Sa X, Conlon RA, Beddington RS. Axial skeletal defects caused by mutation in the ... Obstet Gynecol. 1997; 9 :314–8. [ PubMed : ...
  8. Wilms Tumor and Other Childhood Kidney Tumors Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65842
    ... the following: Evidence of WNT pathway activation by activating mutations in the CTNNB1 gene is common.[ 69 - 71 ] Loss of heterozygosity (LOH) ... precursor intralobar nephrogenic rests, supporting a model whereby activating MLLT1 ... (tumor suppressor gene). Most anaplastic Wilms tumor cases show mutations in ...
  9. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... become cancerous. The <html:i >HRAS</html:i> gene is in the Ras family of oncogenes, which also includes two other genes: < ... become cancerous. The <html:i >KRAS</html:i> gene is in the Ras family of oncogenes, which also includes two other genes: < ...
  10. Childhood Brain Stem Glioma Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65812
    ... ACVR1 gene: Approximately 20% of DIPG cases have activating mutations in the ACVR1 gene, with most occurring concurrently with H3.3 mutations.[ ... pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 ... and chromatin remodelling genes in paediatric glioblastoma. Nature 482 (7384): 226-31, ...
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