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Case report: A novel biallelic variant causing multisystem ..:
Naomi Mayman
;
Jiangbo Wei
;
Shangjun Cai
...
https://doi.org/10.1177/2050313X231188883. , 2023
Link:
https://doi.org/10.1177/2050313X231188883
RT Journal T1
Case report: A novel biallelic variant causing multisystem anomalies with severe epilepsy, widening the spectrum of syndrome
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:f75930d2cefe4b9a8cd20f0a011b5c90&Exemplar=1&LAN=DE A1 Naomi Mayman A1 Jiangbo Wei A1 Shangjun Cai A1 Rohan Soman A1 Hillary Raynes A1 Maite La Vega-Talbott A1 Chuan He A1 Thomas Naidich A1 G. Praveen Raju A1 Sathiji Kathiresu Nageshwaran PB SAGE Publishing YR 2023 K1 Medicine (General) K1 R5-920 JF https://doi.org/10.1177/2050313X231188883 LK http://dx.doi.org/https://doi.org/10.1177/2050313X231188883 DO https://doi.org/10.1177/2050313X231188883 SF ELIB - SuUB Bremen
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