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Clinical exome sequencing identifies pathogenic SQSTM1 variant in a patient with chorea and gaze palsy
| Title: | Clinical exome sequencing identifies pathogenic SQSTM1 variant in a patient with chorea and gaze palsy | Authors: | Stojadinović, Lenka  ; Petrović, Igor  ; Dragašević-Mišković, Nataša ; Jovanović, Emilija; Marković, Vladana ; Janković, Milena ; Novaković, Ivana ; Marjanović, Ana |
Issue Date: | 2025 | Publication: | 15th Balkan Congress of Human Genetics and 3rd Alpe Adria Meeting of Human Genetics, Bled, Slovenia, October 09-11, 2025 . | Publisher: | [Ljubljana : Slovensko zdravniško društvo] | Type: | Conference Paper | Collation: | str. 162-162 | URI: | https://enauka.gov.rs/handle/123456789/1012015 | URL: | https://www.bledgenetics2025.com/_files/ugd/49b14b_9303e1ade8b040b686cc363c85b3c708.pdf https://plus-legacy.cobiss.net/cobiss/si/sl/bib/252921347 |
Metadata source: | (Preuzeto iz ORCID-a) Marjanović, Ana | M-category: | Mp. category will be shown later |
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