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Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome
Author(s) -
OzLevi D.,
Weiss B.,
Lahad A.,
Greenberger S.,
PodeShakked B.,
Somech R.,
Olender T.,
Tatarsky P.,
MarekYagel D.,
Pras E.,
Anikster Y.,
Lancet D.
Publication year - 2015
Publication title -
clinical genetics
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12494
Subject(s) - exome sequencing , differential diagnosis , exome , computational biology , differential (mechanical device) , computer science , information retrieval , medicine , genetics , bioinformatics , biology , mutation , pathology , gene , engineering , aerospace engineering