Publications:

A novel missense variant in the L2HGDH gene in a cat with L-2-hydroxyglutaric aciduria and multicystic cerebral lesions.

Journal Of Veterinary Internal Medicine

Christen, Matthias M; Gonzalo-Nadal, Veronica V; Kaczmarska, Adriana A; Dyrka, Magdalena M; Guevar, Julien J; Jagannathan, Vidhya V; Leeb, Tosso T; Gutierrez-Quintana, Rodrigo R

Publication Date: 2023-03-07

Variant appearance in text: PDE11A: 1737+1178G>A

PubMed Link: 36880414

Variant Present in the following documents:

• JVIM-37-676-s001.xlsx, sheet 1

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