ArticleFrontiers in medicine2024
Case report: Whole exome sequencing identified a novel mutation (p.Y301H) of
Article in Frontiers in medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 1 citations in OpenAlex.
- Mapping of CELF1-RNA interactions reveals post-transcriptional control of lens development.NAR molecular medicine · 2026Article
- Lens tissue transcriptome analysis in patients with total congenital cataract.Human genomics · 2026Article
- Mapping of CELF1-RNA interactions reveals post-transcriptional control of lens development.bioRxiv : the preprint server for biology · 2026Article
- Case Report: Identification of aFrontiers in medicine · 2026Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Congenital cataracts stand as the primary cause of childhood blindness globally, characterized by clouding of the eye's lens at birth or shortly thereafter. Previous investigations have unveiled that a variant in the Methods: In this investigation, we recruited a Chinese family with non-syndromic cataracts. Whole exome sequencing and Sanger sequencing were applied to scrutinize the genetic anomaly within the family. Results: Through whole exome sequencing and subsequent data filtration, a new mutation (NM_005360, c.901T>C/p.Y301H) in the Conclusion: Hence, we have documented a new
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