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1 Ergebnisse
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A novel, likely pathogenic variant in UBTF‐related neurodeg..:
Rory J. Tinker
;
Tiffany Guess
;
David C. Rinker
...
https://doi.org/10.1002/mgg3.2054. , 2022
Link:
https://doi.org/10.1002/mgg3.2054
RT Journal T1
A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:b91ff5b22f1346b884bf9f230a6e5293&Exemplar=1&LAN=DE A1 Rory J. Tinker A1 Tiffany Guess A1 David C. Rinker A1 Jonathan H. Sheehan A1 Daniel Lubarsky A1 Binu Porath A1 Mackenzie Mosera A1 Ping Mayo A1 Emily Solem A1 Laura A. Lee A1 Asha Sarma A1 Jennifer Brault PB Wiley YR 2022 K1 CONDBA K1 UBTF K1 whole exome sequencing K1 Genetics K1 QH426-470 JF https://doi.org/10.1002/mgg3.2054 LK http://dx.doi.org/https://doi.org/10.1002/mgg3.2054 DO https://doi.org/10.1002/mgg3.2054 SF ELIB - SuUB Bremen
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