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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Query Trace: Dyskeratosis Congenita and C16orf57[original query]
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.
Molecular genetics & genomic medicine 2016 May 4 (3): 359-66.
Suter Aude-Annick, Itin Peter, Heinimann Karl, Ahmed Munaza, Ashraf Tazeen, Fryssira Helen, Kini Usha, Lapunzina Pablo, Miny Peter, Sommerlund Mette, Suri Mohnish, Vaeth Signe, Vasudevan Pradeep, Gallati Sabi
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