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C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification.
Genes Dev. 2012 Sep 1;26(17):1911-25. doi: 10.1101/gad.193169.112. Epub 2012 Aug 16.
Genes Dev. 2012.
PMID: 22899009
Free PMC article.
Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA.
Shchepachev V, Wischnewski H, Missiaglia E, Soneson C, Azzalin CM.
Shchepachev V, et al.
Cell Rep. 2012 Oct 25;2(4):855-65. doi: 10.1016/j.celrep.2012.08.031. Epub 2012 Sep 27.
Cell Rep. 2012.
PMID: 23022480
Free article.
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