Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations
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| Description | article |
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author: Emanuela Maserati Antonella Minelli Gabriele Babini Simone Cesaro |
| Publication date | September 10, 2018 |
| Language | English |
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