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A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy

Published Print: 2021-05

Authors

Ni, Min

Afroze, Bushra

Xing, Chao

Pan, Chunxiao

Shao, Yanqiu

Cai, Ling

Cantarel, Brandi L.

Pei, Jimin

Grishin, Nick V.

Hewson, Stacy

Knight, Devon

Mahida, Sonal

Michel, Donnice

Tarnopolsky, Mark

Poduri, Annapurna

Rotenberg, Alexander

Sondheimer, Neal

DeBerardinis, Ralph J. https://orcid.org/0000-0002-2705-7432
Funding

Funding for this research was provided by:

Howard Hughes Medical Institute (N/A)

Moody Foundation (Robert L. Moody, Sr. Faculty Scholar Award)

Once Upon A Time Foundation (N/A)
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Text and Data Mining valid from 2021-05-01

Version of Record valid from 2021-11-24
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This article is maintained by: Elsevier

Article Title: A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy

Journal Title: Genetics in Medicine

CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/s41436-020-01071-z

Content Type: article

Copyright: © 2021, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics

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