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Case Report: Heterozygous Germline Variant in EIF6 Addition..:
Taha, Ibrahim
;
Foroni, Selena
;
Valli, Roberto
...
Frontiers in Genetics. 13 (2022) - p. , 2022
Link:
https://doi.org/10.3389/fgene.2022.896749
RT Journal T1
Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.3389_fgene.2022.896749&Exemplar=1&LAN=DE A1 Taha, Ibrahim A1 Foroni, Selena A1 Valli, Roberto A1 Frattini, Annalisa A1 Roccia, Pamela A1 Porta, Giovanni A1 Zecca, Marco A1 Bergami, Elena A1 Cipolli, Marco A1 Pasquali, Francesco A1 Danesino, Cesare A1 Scotti, Claudia A1 Minelli, Antonella PB Frontiers Media SA YR 2022 SN 1664-8021 JF Frontiers in Genetics VO 13 LK http://dx.doi.org/https://doi.org/10.3389/fgene.2022.896749 DO https://doi.org/10.3389/fgene.2022.896749 SF ELIB - SuUB Bremen
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