Varaico: Literature-Extracted Genetic Variants

Gene:GMPPA
Variant:p.G285Splc
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GMPPA

NM_013335.4:p.G285Splc

Associated Papers

Achalasia and mental retardation in a child with uniparental disomy of GMPPA treated with POEM.

Qiu X et al.

Gastroenterology Report, 2025

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.

Gold WA et al.

American Journal of Medical Genetics. Part A, 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."