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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 19, 2025. (Total: 235441Documents)
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Query Trace: Hamartoma and KLLN[original query]
Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A.
American journal of medical genetics. Part A 2019 May .
Golas Monika M, Auber Bernd, Ripperger Tim, Pabst Brigitte, Schmidt Gunnar, Morlot Michel, Diebold Uta, Steinemann Doris, Schlegelberger Brigitte, Morlot Susan
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