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79 results
  1. KMT2B-Related Dystonia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK493766
    ... Locus Protein HGMD ClinVar KMT2B 19q13 ​.12 Histone-lysine N-methyltransferase 2B KMT2B KMT2B Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  2. KMT2E-Related Neurodevelopmental Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK602945
    ... Protein HGMD ClinVar KMT2E 7q22 ​.3 Inactive histone-lysine N-methyltransferase 2E KMT2E KMT2E Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  3. SETD1B-Related Neurodevelopmental Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK584549
    ... Locus Protein HGMD ClinVar SETD1B 12q24 ​.31 Histone-lysine N-methyltransferase SETD1B SETD1B SETD1B Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  4. EZH2-Related Overgrowth - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK148820
    ... Specific Databases HGMD ClinVar EZH2 7q36 ​.1 Histone-lysine N-methyltransferase EZH2 EZH2 database EZH2 EZH2 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  5. Wiedemann-Steiner Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK580718
    ... Specific Databases HGMD ClinVar KMT2A 11q23 ​.3 Histone-lysine N-methyltransferase 2A KMT2A database KMT2A KMT2A Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  6. Kabuki Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK62111
    ... UTX @ LOVD KDM6A KDM6A KMT2D 12q13 ​.12 Histone-lysine N-methyltransferase 2D KMT2D database KMT2D KMT2D Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  7. SETD2 Neurodevelopmental Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK575927
    ... Specific Databases HGMD ClinVar SETD2 3p21 ​.31 Histone-lysine N-methyltransferase SETD2 SETD2 @ LOVD SETD2 SETD2 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  8. Kleefstra Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK47079
    ... Specific Databases HGMD ClinVar EHMT1 9q34 ​.3 Histone-lysine N-methyltransferase EHMT1 EHMT1 database EHMT1 EHMT1 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  9. PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1462
    ... Specific Databases HGMD ClinVar PLOD1 1p36 ​.22 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 PLOD1 @ LOVD PLOD1 PLOD1 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  10. Evidence reports part 1 - Donor Breast Milk Banks - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK66135
    ... bank Primary study - in ... components, though no references are found regarding the possible changes in milk ...
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