Publications:

Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures.

Plos Genetics

Pottie, Lore L; Van Gool, Wouter W; Vanhooydonck, Michiel M; Hanisch, Franz-Georg FG; Goeminne, Geert G; Rajkovic, Andreja A; Coucke, Paul P; Sips, Patrick P; Callewaert, Bert B

Publication Date: 2021-06

Variant appearance in text: TG: 334insGG

PubMed Link: 34143769

Variant Present in the following documents:

• Main text
• pgen.1009603.pdf

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