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Case Report: Heterozygous Germline Variant in EIF6 Addition..:
Ibrahim Taha
;
Selena Foroni
;
Roberto Valli
...
https://www.frontiersin.org/articles/10.3389/fgene.2022.896749/full. , 2022
Link:
https://doi.org/10.3389/fgene.2022.896749
RT Journal T1 <Title>Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome</Title> UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:e38c4f61baaf49bdb08f06050e0d36c4&Exemplar=1&LAN=DE A1 Ibrahim Taha A1 Selena Foroni A1 Roberto Valli A1 Annalisa Frattini A1 Pamela Roccia A1 Giovanni Porta A1 Marco Zecca A1 Elena Bergami A1 Marco Cipolli A1 Francesco Pasquali A1 Cesare Danesino A1 Claudia Scotti A1 Antonella Minelli PB Frontiers Media S.A. YR 2022 K1 Shwachman–Diamond syndrome K1 EIF6 K1 SBDS K1 whole-exome sequencing K1 case report K1 Genetics K1 QH426-470 JF https://www.frontiersin.org/articles/10.3389/fgene.2022.896749/full 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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