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Identification of a novel truncated pathogenic variant in PUS1 gene in two siblings of consanguineous Tunisian family: intrafamilial phenotypic variability related to mtDNA copy number

Crossref DOI link: https://doi.org/10.1007/s00277-025-06259-4

Published Online: 2025-02-17

Published Print: 2025-02

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Ammar, Marwa

Kmiha, Sana

Maalej, Marwa

Felhi, Rahma

Kharrat, Marwa

Alila-Fersi, Olfa

Chouchen, Jihen

Maaloul, Ines

Mkaouar-Rebai, Emna

Kammoun, Thouraya

Tlili, Abdelaziz

Fakhfakh, Faiza
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Version of Record valid from 2025-02-17
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Article History

Received: 15 February 2024

Accepted: 11 February 2025

First Online: 17 February 2025

Declarations

:

: The study protocol conforms to the approval of local ethical committee of CHU Hedi Chaker Sfax, in compliance with the Declaration of Helsinki. Informed consent was obtained from all individual participants included in the study.

: The authors declare no competing interests.

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