A case of early-onset epileptic encephalopathy with a...

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American Journal of Medical Genetics Part A 2019 / 01

A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy

Nakashima, Mitsuko, Negishi, Yutaka, Hori, Ikumi, Hattori, Ayako, Saitoh, Shinji, Saitsu, Hirotomo
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Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.61056
Date:
January, 2019
File:
PDF, 2.48 MB
2019
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