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  1. Rare gene mutation may have link to common cold | NIH MedlinePlus Magazine 
    https://magazine.medlineplus.gov/...ion-may-have-link-to-common-cold
    Common Cold Rare gene mutation may have link to common cold Colds seem harder to escape as the temperature drops and people spend more ... found a mutation in the IFIH1 gene. The gene mutation created problems with proteins in her respiratory tract. " ...
  2. One family’s journey to find epilepsy answers | NIH MedlinePlus Magazine 
    https://magazine.medlineplus.gov/...journey-to-find-epilepsy-answers
    ... One family’s journey to find epilepsy answers Rare gene mutation caused up to 10 seizures per hour As ... development. Genetic testing, however, revealed SYNGAP1—a rare gene mutation discovered in 2009. SYNGAP1 causes developmental delays and ...
  3. Rett syndrome: an overview of this rare genetic disorder | NIH MedlinePlus Magazine 
    https://magazine.medlineplus.gov/...ew-of-this-rare-genetic-disorder
    ... also have female family members with the MECP2 gene mutation. Not everyone with a MECP2 gene mutation will develop Rett syndrome. How can doctors find ...
  4. One-page summaries of the genetic tests for cancers - Update on Emerging Genetic Tests Currently Available for Clinical ... 
    https://www.ncbi.nlm.nih.gov/books/NBK285334
    ... 32 FDA approved : No Gene Test Information: BRAF gene mutation detection, Multiple Test Name: BRAF gene mutation detection ... approved : No Gene Test Information: 5-Fluorouracil Sensitivity gene mutations Test Name: 5-FU sensitivity (DPYD, TYMS, and ...
  5. NCBI Researchers Help Identify New Syndrome and Gene Mutation 
    https://infocus.nlm.nih.gov/.../10/01/ncbi_researchers_help_identify
    ... also identified the genetic cause of the syndrome: mutations in the gene Glucose-6-phosphatase, catalytic subunit 3 (G6PC3). The ...
  6. Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer Treatment (PDQ®) - PDQ Cancer Information Summaries - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK65718
    ... and primary peritoneal cancers are caused by inherited gene mutations (changes). The genes in cells carry the hereditary ... cancer may also be caused by certain inherited gene mutations . There are tests that can detect gene mutations. ...
  7. Breast Cancer Treatment (Adult) (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65969
    ... CANCER. Breast cancer is sometimes caused by inherited gene mutations (changes). The genes in cells carry the hereditary ... in certain ethnic groups. Women who have certain gene mutations , such as a BRCA1 or BRCA2 mutation, have ...
  8. Childhood Pheochromocytoma and Paraganglioma Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK552284
    ... problems and affect many body functions. Inheriting certain gene mutations (changes) increases the risk of pheochromocytoma and paraganglioma. ...
  9. Androgen Insensitivity Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1429
    ... com http://www.aissga.org.au/ Androgen Receptor Gene Mutations Database The Lady Davis Institute for Medical Research ... LOVD alsod/AR genetic mutations The Androgen Receptor Gene Mutations Database AR AR Data are compiled from the ...
  10. New treatments possible for a rare childhood cancer | NIH MedlinePlus Magazine 
    https://magazine.medlineplus.gov/...ible-for-a-rare-childhood-cancer
    ... childhood cancer Findings from study may help target gene mutations and improve therapies Thanks to new research, children ... with RMS would respond to treatment. They found mutations in several genes that seem to be connected to a more ...
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