BioinformaticsbioRxivPreprint
Investigating the Structural Impact and Conformational Dynamics of a Sequence Variant (c.242G>A) in TMIE Gene Provoking Usher Syndrome
Saqib Ishaq, Shabir Ahmad Usmani, Obaid Habib…·Liang Huiying
This study uses molecular dynamics simulations to show that the c.242G>A variant in TMIE causes structural instability and conformational changes leading to Usher syndrome.
DOI 10.1101/2024.04.02.587802