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Case Report: Heterozygous Germline Variant in EIF6 Addition..:
Taha I
;
Foroni S
;
Valli R
...
info:eu-repo/semantics/altIdentifier/pmid/36035165. , 2022
Link:
https://hdl.handle.net/11383/2142991
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-ftuninsubriairis:oai:irinsubria.uninsubria.it:11383_2142991&Exemplar=1&LAN=DE A1 Taha I A1 Foroni S A1 Valli R A1 Frattini A A1 Roccia P A1 Porta G A1 Zecca M A1 Bergami E A1 Cipolli M A1 Pasquali F A1 Danesino C A1 Scotti C A1 Minelli A YR 2022 K1 EIF6 K1 SBDS K1 Shwachman–Diamond syndrome K1 case report K1 whole-exome sequencing JF info:eu-repo/semantics/altIdentifier/pmid/36035165 LK http://dx.doi.org/https://hdl.handle.net/11383/2142991 DO https://hdl.handle.net/11383/2142991 SF ELIB - SuUB Bremen
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