Decoding NF1 Intragenic Copy-Number Variations.

  title={Decoding NF1 Intragenic Copy-Number Variations.},
  author={Meng-Chang Hsiao and Arkadiusz Piotrowski and Tom Callens and Chuanhua Fu and Katharina Wimmer and Kathleen B M Claes and Ludwine M Messiaen},
  journal={American journal of human genetics},
  volume={97 2},
Genomic rearrangements can cause both Mendelian and complex disorders. Currently, several major mechanisms causing genomic rearrangements, such as non-allelic homologous recombination (NAHR), non-homologous end joining (NHEJ), fork stalling and template switching (FoSTeS), and microhomology-mediated break-induced replication (MMBIR), have been proposed. However, to what extent these mechanisms contribute to gene-specific pathogenic copy-number variations (CNVs) remains understudied. Furthermore… CONTINUE READING
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