Varaico: Literature-Extracted Genetic Variants

Gene:MAPRE3
Variant:p.Q208_L209Splc
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MAPRE3

NM_012326.4:p.Q208_L209Splc

Associated Papers

Urologic manifestations of hypotonia, ataxia, and delayed development syndrome (HADDS), a rare neurodevelopmental disorder.

Batie SF et al.

Journal of Pediatric Urology, 2023

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.

Tanaka AJ et al.

Cold Spring Harbor Molecular Case Studies, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."