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A patient with a novel pathogenic variant in COL5A1 exhibit..:
Lavanya, Katta
;
Mahtani, Karishma
;
Abbott, Jessica
...
American Journal of Medical Genetics Part A. 188 (2022) 7 - p. 2192-2197 , 2022
Link:
https://doi.org/10.1002/ajmg.a.62745
RT Journal T1
A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.62745&Exemplar=1&LAN=DE A1 Lavanya, Katta A1 Mahtani, Karishma A1 Abbott, Jessica A1 Jain, Angita A1 Selvam, Pavalan A1 Atwal, Herjot A1 Farres, Houssam A1 Atwal, Paldeep S. PB Wiley YR 2022 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 188 IS 7 SP 2192 OP 2197 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.62745 DO https://doi.org/10.1002/ajmg.a.62745 SF ELIB - SuUB Bremen
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