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Biallelic variants in TUBGCP6 result in microcephaly and ch..:
Thomas‐Wilson, Amanda
;
Schacht, John P.
;
Chitayat, David
...
American Journal of Medical Genetics Part A. 191 (2023) 7 - p. 1935-1941 , 2023
Link:
https://doi.org/10.1002/ajmg.a.63203
RT Journal T1 <Title>Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.63203&Exemplar=1&LAN=DE A1 Thomas‐Wilson, Amanda A1 Schacht, John P. A1 Chitayat, David A1 Blaser, Susan A1 Santos, Francis Jeshira Reynoso A1 Glaser, Kimberly A1 Caffo, Alesky A1 Wentzensen, Ingrid M. A1 Henderson, Lindsay B. A1 Zhang, Futao A1 Zhu, Ying A1 Di Corleto, Ellen A1 da Silva Costa, Fabricio A1 Vink, Rebecca A1 Alkhunaizi, Ebba A1 Russell, Laura A1 Buckley, Michael F. A1 Roscioli, Tony A1 Pereira, Elaine Maria A1 Ganapathi, Mythily PB Wiley YR 2023 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 191 IS 7 SP 1935 OP 1941 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.63203 DO https://doi.org/10.1002/ajmg.a.63203 SF ELIB - SuUB Bremen
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