Publications:

De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures.

Cold Spring Harbor Molecular Case Studies

Assia Batzir, Nurit N; Bhagwat, Pranjali K PK; Eble, Tanya N TN; Liu, Pengfei P; Eng, Christine M CM; Elsea, Sarah H SH; Robak, Laurie A LA; Scaglia, Fernando F; Goldman, Alica M AM; Dhar, Shweta U SU; Wangler, Michael F MF

Publication Date: 2019-06

Variant appearance in text: rs199619932

PubMed Link: 30850373

Variant Present in the following documents:

• Main text

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: N/A

PubMed Link: 30380422

Variant Present in the following documents:

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