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A novel de novo canonical splice site mutation in the PTCH1..:
Parisa Mashayekhi
;
Mir Davood Omrani
;
Seyed Hasan Tonekaboni
.
https://doi.org/10.1038/s41439-023-00254-9. , 2023
Link:
https://doi.org/10.1038/s41439-023-00254-9
RT Journal T1
A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:99309a51558642f581dbe3a1553da542&Exemplar=1&LAN=DE A1 Parisa Mashayekhi A1 Mir Davood Omrani A1 Seyed Hasan Tonekaboni A1 Ali Dehghanifard PB Nature Publishing Group YR 2023 K1 Genetics K1 QH426-470 K1 Life K1 QH501-531 JF https://doi.org/10.1038/s41439-023-00254-9 LK http://dx.doi.org/https://doi.org/10.1038/s41439-023-00254-9 DO https://doi.org/10.1038/s41439-023-00254-9 SF ELIB - SuUB Bremen
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