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Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene.

BMC medical genetics | 2011

Copy number variations (CNVs) can contribute to variable degrees of fitness and/or disease predisposition. Recent studies show that at least 1% of any given genome is copy number variable when compared to the human reference sequence assembly. Homozygous deletions (or CNV nulls) that are found in the normal population are of particular interest because they may serve to define non-essential genes in human biology.

Pubmed ID: 21439084 RIS Download

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Associated grants

  • Agency: Autism Speaks, United States
    Id: AS2187
  • Agency: CIHR, Canada

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COS-7 (tool)

RRID:CVCL_0224

Cell line COS-7 is a Transformed cell line with a species of origin Chlorocebus aethiops (Green monkey)

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