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Results 1 - 10 of 46 for Insertion
  1. FKTN gene 
    ... least one copy of the same mutation, an insertion of about 3,000 extra DNA building blocks (3 kilobases [kb]) in the FKTN gene. This insertion occurs in a part of the gene known ...
    https://medlineplus.gov/genetics/gene/fktn - Genetics
  2. DVL1 gene 
    The DVL1 gene provides instructions for making a protein that plays a critical role in development before birth. It is one of three DVL genes in humans (DVL1, ...
    https://medlineplus.gov/genetics/gene/dvl1 - Genetics
  3. What kinds of gene variants are possible?: MedlinePlus Genetics 
    ... function improperly, be nonfunctional, or get broken down. Insertion An insertion changes the DNA sequence by adding one or ... function of the affected protein or proteins. Deletion-Insertion This variant occurs when a deletion and insertion ...
    https://medlineplus.gov/.../mutationsanddisorders/possiblemutations - Genetics
  4. ACE gene 
    ... gene includes this region; it is called the insertion, or I, allele. Another variant is missing this ... H, Zhao G, Huang C. Angiotensin-converting enzyme insertion/deletion gene polymorphisms and risk of intracerebral hemorrhage: ...
    https://medlineplus.gov/genetics/gene/ace - Genetics
  5. PDHA1 gene 
    ... building blocks (nucleotides) to the PDHA1 gene (called insertion and deletion mutations, respectively). These types of mutations ... E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to ...
    https://medlineplus.gov/genetics/gene/pdha1 - Genetics
  6. MECP2 gene 
    ... These mutations include changes in single base pairs, insertions or deletions of DNA in the gene, and ... in humans, shows conserved coding regions, independent Alu insertions, and a novel transcript across primate evolution. BMC ...
    https://medlineplus.gov/genetics/gene/mecp2 - Genetics
  7. TAF1 gene 
    ... transcript system. The extra segment results from the insertion of a retrotransposon, which is a small piece ... gene's function. In this case, the retrotransposon insertion probably interferes with the normal function of the ...
    https://medlineplus.gov/genetics/gene/taf1 - Genetics
  8. SMARCA2 gene 
    ... FA, Tsao MS, Reisman D. Two novel BRM insertion promoter sequence variants are associated with loss of ... S, Reisman D, Liu G. Two BRM promoter insertion polymorphisms increase the risk of early-stage upper ...
    https://medlineplus.gov/genetics/gene/smarca2 - Genetics
  9. Can a change in the number of genes affect health and development?: MedlinePlus Genetics 
    ... number variations (CNV). Copy number variation results from insertions, deletions, and duplications of large segments of DNA ...
    https://medlineplus.gov/.../copynumbervariation - Genetics
  10. SIL1 gene 
    ... Kuroda Y. Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese ...
    https://medlineplus.gov/genetics/gene/sil1 - Genetics
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