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Functional and pathogenic insights into CNNM4 variants in Jalili syndrome - Nature

Retrieved on: 2024-11-23 19:52:01

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Functional and pathogenic insights into CNNM4 variants in Jalili syndrome - Nature. View article details on hiswai:

Summary

The article explores variants of the CNNM4 gene linked to Jalili syndrome, detailing their biochemical effects, including impaired Mg²⁺ transport. The study used HEK 293 cells for transfections, showing reduced gene expression and protein stability. This research intersects with biotechnology and molecular biology, emphasizing gene expression, RNA, and transfection techniques related to spliceosome-mediated processing of messenger RNA.

Article found on: www.nature.com

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