Characterization of the molecular dysfunctions occurring in Aicardi-Goutières syndrome patients with mutations in ADAR1.

Authors:
Al Wardat S; Frassinelli L; Orecchini E; Rey F; Ciafrè SA and 9 more

Journal:
Genes Dis

Publication Year: 2023

DOI:
10.1016/j.gendis.2023.05.020

PMCID:
PMC10827400

PMID:
38292175

View on PubMed View on PMC View Publisher
Journal Information

Full Title: Genes Dis

Abbreviation: Genes Dis

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics & Heredity

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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"spreadsheets specific counts are described in the rmats documentation freely available at the github page https://github com/xinglab/rmats-turbo/blob/v4 1 2/readme md)."

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"Conflict of interests The authors declare no conflict of interests."

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"Funding This work was supported by the grants from United Leukodystrophy Foundation (to Alessandro Michienzi) and partially supported by the 10.13039/501100003196Italian Ministry of Health (No. GR-2019-12368701 to Davide Tonduti and Cristina Cereda)."

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Last Updated: Aug 05, 2025