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Biallelic ASCC1 variants including a novel intronic variant..:
Rosano, Kristen K.
;
Wegner, Daniel J.
;
Shinawi, Marwan
...
American Journal of Medical Genetics Part A. 185 (2021) 7 - p. 2190-2197 , 2021
Link:
https://doi.org/10.1002/ajmg.a.62219
RT Journal T1 <Title>Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.62219&Exemplar=1&LAN=DE A1 Rosano, Kristen K. A1 Wegner, Daniel J. A1 Shinawi, Marwan A1 Baldridge, Dustin A1 Bucelli, Robert C. A1 Dahiya, Sonika A1 White, Frances V. A1 Willing, Marcia C. A1 McAllister, William A1 Taft, Ryan J. A1 Bluske, Krista A1 Buchanan, Amanda A1 Cole, Francis Sessions A1 Wambach, Jennifer A. PB Wiley YR 2021 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 185 IS 7 SP 2190 OP 2197 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.62219 DO https://doi.org/10.1002/ajmg.a.62219 SF ELIB - SuUB Bremen
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