Exome sequencing identifies novel missense and deletion...

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American Journal of Medical Genetics Part A 2020 / 10

Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis

D'Gama, Alissa M., England, Eleina, Madden, Jill A., Shi, Jiahai, Chao, Katherine R., Wojcik, Monica H., Torres, Alcy R., Tan, Wen‐Hann, Berry, Gerard T., Prabhu, Sanjay P., Agrawal, Pankaj B.
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Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.61910
Date:
October, 2020
File:
PDF, 3.01 MB
2020
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