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Exome sequencing in a Romanian Bardet‐Biedl syndrome cohort..:
Khan, Sheraz
;
Focșa, Ina Ofelia
;
Budișteanu, Magdalena
...
American Journal of Medical Genetics Part A. 191 (2023) 9 - p. 2376-2391 , 2023
Link:
https://doi.org/10.1002/ajmg.a.63322
RT Journal T1
Exome sequencing in a Romanian Bardet‐Biedl syndrome cohort revealed an overabundance of causal BBS12 variants
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.63322&Exemplar=1&LAN=DE A1 Khan, Sheraz A1 Focșa, Ina Ofelia A1 Budișteanu, Magdalena A1 Stoica, Cristina A1 Nedelea, Florina A1 Bohîlțea, Laurențiu A1 Caba, Lavinia A1 Butnariu, Lăcrămioara A1 Pânzaru, Monica A1 Rusu, Cristina A1 Jurcă, Claudia A1 Chirita‐Emandi, Adela A1 Bănescu, Claudia A1 Abbas, Wasim A1 Sadeghpour, Azita A1 Baig, Shahid Mahmood A1 Bălgrădean, Mihaela A1 Davis, Erica E. PB Wiley YR 2023 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 191 IS 9 SP 2376 OP 2391 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.63322 DO https://doi.org/10.1002/ajmg.a.63322 SF ELIB - SuUB Bremen
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