Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications.
Journal Information
Full Title: BMC Med Genomics
Abbreviation: BMC Med Genomics
Country: Unknown
Publisher: Unknown
Language: N/A
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Subject Category: Genetics, Medical
Available in Europe PMC: Yes
Available in PMC: Yes
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"data availability dna sequencing data is uploaded in chinese academy of sciences/ china national center for bionformation with the following project number: prjca020873"
"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."
"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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Last Updated: Aug 05, 2025