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Blake Robinson

1PUBLICATIONS
14CO-AUTHORS
Neurology and neuromuscular diseases
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Publications (1)

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|Nov 19, 2025
Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy.

Annie T G Chiu, Mark F Bennett, Harshini Thiyagarajah

Pageof 1

Frequent Collaborators

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Annie T G Chiu

1 joint publications

Harshini Thiyagarajah

1 joint publications

Amy L Schneider

1 joint publications

Edith P Almanza Fuerte

1 joint publications

Talia J Allan

1 joint publications

Nico Lieffering

1 joint publications

Christy W LaFlamme

1 joint publications

Soham Sengupta

1 joint publications

Clara W T Chung

1 joint publications

Piero Perucca

Frequent Collaborators

1 joint publications

Annie T G Chiu

1 joint publications

Harshini Thiyagarajah

1 joint publications

Amy L Schneider

1 joint publications

Edith P Almanza Fuerte

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