3 Matching Annotations
- Oct 2024
-
sfhbook.netlify.app sfhbook.netlify.app
-
Remember to bring DVI/VGA-to-DisplayPort adapter if you own a Mac
Good advice for the presenters using macOS
-
- Oct 2022
-
clinicalgenome.org clinicalgenome.org
-
seen by the original user, not by
A case of: Disease assertion: family information: case presenting:
-
- May 2022
-
watermark.silverchair.com watermark.silverchair.com
-
DICER1 syndrome is an autosomal-dominant,pleiotropic, tumor-predisposition disorder arisingfrom pathogenic germline variants in DICER1, whichencodes an endoribonuclease integral to processingmicroRNAs
DICER1 is the gene name. PubMed ID, HGCNCID, and Variant: I can't find Inheritance Pattern: autosomal-dominant The disease entity: DICER1 syndrome The type of mutation: germline. Zygosity: not known. Family Information: a family was used, DICER1 carriers, and non DICER1 variant used, some of the family members had tumors from DICER1 Case Information: mean age is 34, the range of age is 18.6 to 43 years, male, and female used, ethnicity can't find Case Presenting HPO: cancer testing, chemotherapy, radiotherapy gnomeAD: 9.2,8.3.2 Mutation type: Pleiotropic, loss of function, missense
-