Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene.

Journal Information

Full Title: Hum Genomics

Abbreviation: Hum Genomics

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics

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:

"availability of data and materials the wild type and mutant c10orf71 gene sequences datasets generated and/or analysed during the current study are available in the [genbank] repository [oq575334-oq575335]. availability of data and materials the wild type and mutant c10orf71 gene sequences datasets generated and/or analysed during the current study are available in the [genbank] repository [oq575334"

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Evidence found in paper:

"Declarations Ethical approval and consent to participateEthical approval was obtained from the Institutional Review Boards Committee of PNU (IRB-22-0978). Consent for publicationWritten consent was obtained from the patients. Competing interestsThe authors of this article have no affiliations with or involvement in any organization or entity with any financial interest or non-financial interest in the subject matter or materials discussed in this manuscript. Competing interests The authors of this article have no affiliations with or involvement in any organization or entity with any financial interest or non-financial interest in the subject matter or materials discussed in this manuscript."

Evidence found in paper:

"Funding This research was funded by the Deputyship for Research & Innovation, Ministry of Education in Saudi Arabia through the project number RI-44–1238."

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Open Access
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Tool: rtransparent

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Last Updated: Aug 05, 2025