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Deep intronic variant in MVK as a cause for mevalonic acidu..:
Dvaladze, Anna
;
Tavares, Erika
;
Di Scipio, Matteo
...
Clinical Genetics. 102 (2022) 6 - p. 524-529 , 2022
Link:
https://doi.org/10.1111/cge.14207
RT Journal T1
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa
UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_cge.14207&Exemplar=1&LAN=DE A1 Dvaladze, Anna A1 Tavares, Erika A1 Di Scipio, Matteo A1 Nimmo, Graeme A1 Grudzinska‐Pechhacker, Monika K. A1 Paton, Tara A1 Tumber, Anupreet A1 Li, Shuning A1 Eileen, Christabel A1 Ertl‐Wagner, Birgit A1 Mamak, Eva A1 Hoffmann, Georg A1 Marshall, Christian R. A1 Haas, Dorothea A1 Mayatepek, Ertan A1 Schulze, Andreas A1 Heon, Elise A1 Vincent, Ajoy PB Wiley YR 2022 SN 0009-9163 SN 1399-0004 JF Clinical Genetics VO 102 IS 6 SP 524 OP 529 LK http://dx.doi.org/https://doi.org/10.1111/cge.14207 DO https://doi.org/10.1111/cge.14207 SF ELIB - SuUB Bremen
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