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1 Ergebnisse
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Reassessment of the NF1 Variants of Unknown Significance Fo..:
Martorana, D
;
Barili, V
;
Uliana, V
...
info:eu-repo/semantics/altIdentifier/wos/WOS:001088921300001. , 2022
Link:
https://hdl.handle.net/11573/1697079
RT Journal T1 <Title>Reassessment of the NF1 Variants of Unknown Significance Found During the 20-Year Activity of a Genetics Diagnostic Laboratory</Title> UL https://suche.suub.uni-bremen.de/peid=base-ftunivromairis:oai:iris.uniroma1.it:11573_1697079&Exemplar=1&LAN=DE A1 Martorana, D A1 Barili, V A1 Uliana, V A1 Ambrosini, E A1 Riva, M A1 De Sensi, E A1 Luppi, E A1 Messina, C A1 Caleffi, E A1 Pisani, F A1 Percesepe, A YR 2022 K1 Neurofibromatosis type 1 K1 NF1 gene K1 recurrent mutation K1 gene variant reinterpretation K1 reclassification of gene variant K1 ACMG/AMP guidelines JF info:eu-repo/semantics/altIdentifier/wos/WOS:001088921300001 LK http://dx.doi.org/https://hdl.handle.net/11573/1697079 DO https://hdl.handle.net/11573/1697079 SF ELIB - SuUB Bremen
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