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1 Ergebnisse
1
Choosing Variant Interpretation Tools for Clinical Applicat..:
Aguirre, Josu
;
Padilla Sirera, Natàlia
;
Ozkan, Selen
...
International Journal of Molecular Sciences;24(14). , 2023
Link:
https://hdl.handle.net/11351/10111
RT Journal T1
Choosing Variant Interpretation Tools for Clinical Applications: Context Matters
UL https://suche.suub.uni-bremen.de/peid=base-ftscientia:oai:scientiasalut.gencat.cat:11351_10111&Exemplar=1&LAN=DE A1 Aguirre, Josu A1 Padilla Sirera, Natàlia A1 Ozkan, Selen A1 Riera, Casandra A1 Feliubadaló, Lidia A1 De la Cruz Montserrat, Fco. Xavier PB MDPI YR 2023 K1 Genòmica K1 Anomalies cromosòmiques K1 Biologia computacional K1 Cromosomes humans - Anomalies - Diagnòstic K1 PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Mutation K1 Missense K1 ANALYTICAL K1 DIAGNOSTIC AND THERAPEUTIC TECHNIQUES K1 AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing K1 INFORMATION SCIENCE::Information Science::Informatics::Computational Biology K1 DISCIPLINES AND OCCUPATIONS::Natural Science Disciplines::Biological Science Disciplines::Biology::Computational Biology::Genomics K1 FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de sentido erróneo K1 TÉCNICAS Y EQUIPOS ANALÍTICOS K1 DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas K1 CIENCIA DE LA INFORMACIÓN::Ciencias de la información::informática::biología computacional K1 DISCIPLINAS Y OCUPACIONES::disciplinas de las ciencias naturales::disciplinas de las ciencias biológicas::biología::biología computacional::genómica JF International Journal of Molecular Sciences;24(14) LK http://dx.doi.org/https://hdl.handle.net/11351/10111 DO https://hdl.handle.net/11351/10111 SF ELIB - SuUB Bremen
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