Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications.

Authors:
Su Y; Zhang J; Gao J; Ding G; Jiang H and 3 more

Journal:
BMC Med Genomics

Publication Year: 2024

DOI:
10.1186/s12920-024-01817-7

PMCID:
PMC10811807

PMID:
38279119

Journal Information

Full Title: BMC Med Genomics

Abbreviation: BMC Med Genomics

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
4/6
66.7% Transparent
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Evidence found in paper:

"data availability dna sequencing data is uploaded in chinese academy of sciences/ china national center for bionformation with the following project number: prjca020873"

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Evidence found in paper:

"Declarations Ethics approval and consent to participateInformed consent was obtained from all participants of both families according to the study protocol approved by the Specialized Committee on Science Ethics of the Hubei College of Arts and Sciences under the number 2022-012, and the study complied with the principles of the Declaration of Helsinki. Consent for publicationNot applicable. Competing interestsThe authors declare no competing interests. Competing interests The authors declare no competing interests."

Evidence found in paper:

"Funding This work was supported by the cultivation fund of Basic & clinical medicine co-construction project of Wuhan University for the molecular mechanism of FRMD7 gene function and congenital nystagmus (2022), the Bureau of Xiangyang City Science and Technology Project (2022YL06A), and the Open Fund of Neuroscience and Brainscience Institute of Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science (2023NBI03)."

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Open Access
Paper is freely available to read
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Last Updated: Aug 05, 2025