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Outcome of an enhanced diagnostic pipeline for patients suspected of inherited thrombocytopenia
Author(s) -
Leinøe Eva,
Gabrielaite Migle,
Østrup Olga,
Funding Eva,
Greinacher Andreas,
Ostrowski Sisse R.,
Zetterberg Eva,
Rossing Maria
Publication year - 2019
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.15886
Subject(s) - genotyping , exome sequencing , copy number variation , genetic testing , exome , biology , medicine , genetics , bioinformatics , gene , genotype , mutation , genome
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