Novel pathogenic EIF2S3...

Clinical Genetics 2020 / 11 Vol. 98; Iss. 5

Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review

Kotzaeridou, Urania, Young‐Baird, Sara K., Suckow, Vanessa, Thornburg, Alexis G., Wagner, Matias, Harting, Inga, Christ, Stine, Strom, Tim, Dever, Thomas E., Kalscheuer, Vera M.
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Volume:
98
Journal:
Clinical Genetics
DOI:
10.1111/cge.13831
Date:
November, 2020
File:
PDF, 2.25 MB
2020
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