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  1. TRPV4-Associated Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK201366
    ... TYPE IIC; HMSN2C 606845 GOLGI-ASSOCIATED PDZ AND COILED-COIL DOMAINS-CONTAINING PROTEIN; GOPC Gene structure. TRPV4 comprises 15 exons. Alternative splicing may ...
  2. WAC-Related Intellectual Disability - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK465012
    ... in OMIM ) View in own window 615049 WW DOMAIN-CONTAINING ADAPTOR WITH COILED-COIL REGION; WAC 616708 DESANTO-SHINAWI SYNDROME; DESSH Gene structure. The longest WAC transcript variant NM_016628. ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></gene-summary><gene-summary ><gene-symbol >ABHD5</gene-symbol><name >abhydrolase domain containing 5, lysophosphatidic acid acyltransferase</name><ghr-page >https:// ...
  4. pdf2019NewMeShHeadings.pdf 
    https://www.nlm.nih.gov/mesh/2019/download/2019NewMeShHeadings.pdf
    ... activation domain. It also contains a C-terminal coiled-coil domain and ezrin- radixin moesin (ERM) domain. Mutations in the TSC1 gene are associated with TUBEROUS SCLEROSIS. Parent Heading: Intracellular ...
  5. pdf2019NewMeShHeadingsSingleColumn.pdf 
    https://www.nlm.nih.gov/.../2019NewMeShHeadingsSingleColumn.pdf
    ... activation domain. It also contains a C-terminal coiled-coil domain and ezrin-radixin moesin (ERM) domain. Mutations in the TSC1 gene are associated with TUBEROUS SCLEROSIS. Tree locations: Intracellular ...
  6. Nephronophthisis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... Quick Reference for an explanation of nomenclature. Normal gene product . The longest NPHP3 transcript encodes a protein of 1,330 amino acids. NPHP3: Contains a coiled coil domain , a tubulin-tyrosine ligase domain, and a tetratrico ...
  7. pdf2017NewMeshHeadingsSingleColumnWithScopeAnTree.pdf 
    https://www.nlm.nih.gov/...shHeadingsSingleColumnWithScopeAnTree.pdf
    ... with the TRANSFERRIN RECEPTOR. Mutations in the HFE gene are associated with cases of ... 1 An Ig domain-containing membrane receptor for HEPATITIS A VIRUS; EBOLA VIRUS; ...
  8. pdf2018NewHeadingsSingleColumn508.pdf 
    https://www.nlm.nih.gov/.../2018NewHeadingsSingleColumn508.pdf
    ... PROLINE-RICH PROTEIN DOMAINS and PHOSPHOSERINE or PHOSPHOTHREONINE-containing ... of gene transcription and CHROMATIN REMODELING. ATRX undergoes cell-cycle ...
  9. pdfNLM Annual Report of Programs and Services, 1991 
    https://www.nlm.nih.gov/.../nlmarchives/annualreport/1991.pdf
    ... familial colon cancer. Structural analogies to proteins with coiled-coil regions give evidence of how the gene products could in- teract with other proteins. Claverie ...
  10. pdfNational Library of Medicine - Programs and Services, Fiscal Year FY05 
    https://www.nlm.nih.gov/ocpl/anreports/fy2005.pdf
    ... the public, the site currently includes more than 170 condition summaries and more than 250 gene summaries, which are added at a rate of ... the evolution of protein domains (i.e. Pfam domains). At NCBI, Dr. Resch will ... gene structure, alternative splicing, and the emergence of eukaryotic ...
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