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Case Report: Novel biallelic moderately damaging variants i..:
Ferruccio Romano
;
Elisabetta Amadori
;
Francesca Madia
...
https://www.frontiersin.org/articles/10.3389/fped.2023.1326552/full. , 2023
Link:
https://doi.org/10.3389/fped.2023.1326552
RT Journal T1
Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:f31b7188a4fb46e98c9c34516b293263&Exemplar=1&LAN=DE A1 Ferruccio Romano A1 Elisabetta Amadori A1 Francesca Madia A1 Mariasavina Severino A1 Valeria Capra A1 Renata Rizzo A1 Rita Barone A1 Beatrice Corradi A1 Luca Maragliano A1 Mohammad Sadegh Shams Nosrati A1 Antonio Falace A1 Pasquale Striano A1 Federico Zara A1 Marcello Scala PB Frontiers Media S.A. YR 2023 K1 RTTN K1 microcephaly K1 cognitive impairment K1 seizures K1 cerebellar dysplasia K1 multiple arachnoid cysts K1 Pediatrics K1 RJ1-570 JF https://www.frontiersin.org/articles/10.3389/fped.2023.1326552/full LK http://dx.doi.org/https://doi.org/10.3389/fped.2023.1326552 DO https://doi.org/10.3389/fped.2023.1326552 SF ELIB - SuUB Bremen
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