Publications:

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.

Jimd Reports

Ng, Bobby G BG; Underhill, Hunter R HR; Palm, Lars L; Bengtson, Per P; Rozet, Jean-Michel JM; Gerber, Sylvie S; Munnich, Arnold A; Zanlonghi, Xavier X; Stevens, Cathy A CA; Kircher, Martin M; Nickerson, Deborah A DA; Buckingham, Kati J KJ; Josephson, Kevin D KD; Shendure, Jay J; Bamshad, Michael J MJ; , ; Freeze, Hudson H HH; Eklund, Erik A EA

Publication Date: 2019

Variant appearance in text: TF: 890A>T

PubMed Link: 30117111

Variant Present in the following documents:

• Main text

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