Mutations inEFL1, anSBDSpartner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome

Title
Mutations inEFL1, anSBDSpartner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome
Authors
Keywords
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Journal
JOURNAL OF MEDICAL GENETICS
Volume 54, Issue 8, Pages 558-566
Publisher
BMJ
Online
2017-03-23
DOI
10.1136/jmedgenet-2016-104366

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