Whole exome sequencing discloses heterozygous variants in the DNAJC 21 and EFL 1 genes but not in SRP 54 in 6 out of 16 patients with Shwachman‐Diamond Syndrome carrying biallelic SBDS mutations

Whole exome sequencing discloses heterozygous variants in the DNAJC 21 and EFL 1 genes but not in SRP 54 in 6 out of 16 patients with Shwachman‐Diamond Syndrome carrying biallelic SBDS mutations

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Veröffentlicht in:British journal of haematology 2019-05, Vol.185 (3), p.627-630
Hauptverfasser: Morini, Jacopo, Nacci, Lucia, Babini, Gabriele, Cesaro, Simone, Valli, Roberto, Ottolenghi, Andrea, Nicolis, Elena, Pintani, Emily, Maserati, Emanuela, Cipolli, Marco, Danesino, Cesare, Scotti, Claudia, Minelli, Antonella
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container_title British journal of haematology
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creator Morini, Jacopo
Nacci, Lucia
Babini, Gabriele
Cesaro, Simone
Valli, Roberto
Ottolenghi, Andrea
Nicolis, Elena
Pintani, Emily
Maserati, Emanuela
Cipolli, Marco
Danesino, Cesare
Scotti, Claudia
Minelli, Antonella
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source Wiley Online Library Journals Frontfile Complete; Wiley Free Content
title Whole exome sequencing discloses heterozygous variants in the DNAJC 21 and EFL 1 genes but not in SRP 54 in 6 out of 16 patients with Shwachman‐Diamond Syndrome carrying biallelic SBDS mutations
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