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Resources and tools for rare disease variant interpretation:
Licata, Luana
;
Via, Allegra
;
Turina, Paola
...
info:eu-repo/semantics/altIdentifier/pmid/37234922. , 2023
Link:
https://hdl.handle.net/2318/1930231
RT Journal T1
Resources and tools for rare disease variant interpretation
UL https://suche.suub.uni-bremen.de/peid=base-ftunivtorino:oai:iris.unito.it:2318_1930231&Exemplar=1&LAN=DE A1 Licata, Luana A1 Via, Allegra A1 Turina, Paola A1 Babbi, Giulia A1 Benevenuta, Silvia A1 Carta, Claudio A1 Casadio, Rita A1 Cicconardi, Andrea A1 Facchiano, Angelo A1 Fariselli, Piero A1 Giordano, Deborah A1 Isidori, Federica A1 Marabotti, Anna A1 Martelli, Pier Luigi A1 Pascarella, Stefano A1 Pinelli, Michele A1 Pippucci, Tommaso A1 Russo, Roberta A1 Savojardo, Castrense A1 Scafuri, Bernardina A1 Valeriani, Lucrezia A1 Capriotti, Emidio YR 2023 K1 genetic disorder K1 genome interpretation K1 genotype-phenotype association K1 machine learning K1 precision medicine K1 rare disease K1 single nucleotide variant (SNV) JF info:eu-repo/semantics/altIdentifier/pmid/37234922 LK http://dx.doi.org/https://hdl.handle.net/2318/1930231 DO https://hdl.handle.net/2318/1930231 SF ELIB - SuUB Bremen
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