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1 Ergebnisse
1
Genome-wide variant calling in reanalysis of exome sequenci..:
de Boer, Elke
;
Yaldiz, Burcu
;
Denommé-Pichon, Anne-Sophie
...
https://doi.org/10.1016/j.ejmg.2021.104402. , 2022
Link:
https://hdl.handle.net/20.500.12105/15565
RT Journal T1
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
UL https://suche.suub.uni-bremen.de/peid=base-ftintsaludcarlos:oai:repisalud.isciii.es:20.500.12105_15565&Exemplar=1&LAN=DE A1 de Boer, Elke A1 Yaldiz, Burcu A1 Denommé-Pichon, Anne-Sophie A1 Matalonga, Leslie A1 Laurie, Steve A1 Solve-RD SNV-indel working group A1 Solve-RD-DITF-ITHACA A1 Cuesta de la Plaza, Isabel A1 Posada De la Paz, Manuel PB Elsevier YR 2022 K1 TUBB3 K1 Exome sequencing K1 Genome-wide variant calling K1 Solve-RD K1 ERN ITHACA K1 Adolescent K1 Brain K1 Developmental Disabilities K1 Face K1 Female K1 Humans K1 Intellectual Disability K1 Microcephaly K1 Mutation K1 Missense K1 Strabismus K1 Tubulin JF https://doi.org/10.1016/j.ejmg.2021.104402 LK http://dx.doi.org/https://hdl.handle.net/20.500.12105/15565 DO https://hdl.handle.net/20.500.12105/15565 SF ELIB - SuUB Bremen
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