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3 results
  1. COL4A1-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK7046
    ... a COL4A1 pathogenic missense variant that disrupts the collagen triple helix (see ... may also be considered. Note: (1) The genes included in the panel and the ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></gene-summary><gene-summary ><gene-symbol >GTF2IRD1</gene-symbol><name >GTF2I repeat domain containing 1</name><ghr-page >https://medlineplus.gov/genetics/gene/ ...
  3. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... gene/gtf2i</url></topic><topic ><title >GTF2IRD1: GTF2I repeat domain containing 1</title><url >https://medlineplus.gov/genetics/gene/gtf2ird1</url></topic><topic ><title >GUCY2D: guanylate cyclase ...