7 Matching Annotations
  1. Aug 2020
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    VCV000431917.2 - ClinVar - NCBI
    1
    1. azankl 02 Aug 2020
      Last evaluated:

      last evaluated in 2015, but only submitted in 2019, does not make sense

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    ncbi.nlm.nih.gov/clinvar/variation/431917/
  3. Sep 2019
  4. www.sciencedirect.com www.sciencedirect.com
    Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB
    1
    1. azankl 05 Sep 2019
      complete destruction of carpal bones

      HP:0001495

      HPO
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    sciencedirect.com/science/article/pii/S0002929712000353
  5. Jun 2018
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. - PubMed - NCBI
    2
    1. azankl 14 Jun 2018
      MAFB
      Gene:MAFB
    2. azankl 14 Jun 2018
      progressive renal failure
      Renal Failure
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    ncbi.nlm.nih.gov/pubmed/22387013
  7. Nov 2017
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The practical update for family physicians in the diagnosis and management of overactive bladder and lower urinary tract symptoms. - PubMed - NCBI
    1
    1. azankl 21 Nov 2017
      urinary urgency

      its working!

      Urinary urgency
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    ncbi.nlm.nih.gov/pubmed/29151006
  9. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Achondroplasia: Current Options and Future Perspective. - PubMed - NCBI
    2
    1. azankl 14 Nov 2017
      craniocervical junction compression

      missing HPO

      missing
    2. azankl 14 Nov 2017
      macrocephaly

      HPO:000256

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    ncbi.nlm.nih.gov/pubmed/26182483