Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome - Concepedia

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Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

DOI Full Paper Access

298

Citations

14

References

2010

Year

Peter Krawitz, Michal R. Schweiger, Christian Rödelsperger, Carlo Marcelis, Uwe Kölsch, Christian Meisel, Friederike Stephani, Taroh Kinoshita, Yoshiko Murakami, Sebastian Bauer,

Nature Genetics

BioinformaticsDevelopmental BiologyMendelian DisorderGenetic DisorderGeneticsIdentity-by-descent FilteringMolecular GeneticsDisease Gene IdentificationGenomicsSystems BiologyMedicineFunctional GenomicsEpigeneticsVariant Interpretation

References

	Year	Citations

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