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BMC Pediatr
JSON
ISSN
1471-2431
ISSN-L
1471-2431
IUID
ab65aaf55f384debbe7485d00605b7d5
Modified
2020-11-27T13:14:03.715Z
Created
2018-10-29T09:09:50.659Z
Year 2018
PubMed
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Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report.
Lundin KE
, Wang Q, Hamasy A, ..., Ekwall O, Smith CIE
BMC Pediatr
18
(1) 285 [2018-08-29; online 2018-08-29]
Clinical Genomics Stockholm [Collaborative]
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