Publications:

Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.

American Journal Of Human Genetics

Ganapathi, Mythily M; Padgett, Leah R LR; Yamada, Kentaro K; Devinsky, Orrin O; Willaert, Rebecca R; Person, Richard R; Au, Ping-Yee Billie PB; Tagoe, Julia J; McDonald, Marie M; Karlowicz, Danielle D; Wolf, Barry B; Lee, Joanna J; Shen, Yufeng Y; Okur, Volkan V; Deng, Liyong L; LeDuc, Charles A CA; Wang, Jiayao J; Hanner, Ashleigh A; Mirmira, Raghavendra G RG; Park, Myung Hee MH; Mastracci, Teresa L TL; Chung, Wendy K WK

Publication Date: 2019-02-07

Variant appearance in text: DHPS: 2T>C

PubMed Link: 30661771

Variant Present in the following documents:

• Main text

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