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A statistical approach to detection of copy number variations in PCR-enriched targeted sequencing dataIdentification of a novel, CF-causing compound genotype (p.S1159P and p.Y569H) using an NGS-based assay: Novel CF-causing compound p.S1159P and p.Y569H genotype.[Design and verification of the reagent kit for high-productive HLA-typing of potential donors of hemopoietic stem cells.]
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description
investigador
@es
researcher
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name
Tamara Simakova
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type
label
Tamara Simakova
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prefLabel
Tamara Simakova
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P496
0000-0001-9023-4852