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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GMPPA

Variant:p.Q60*

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GMPPA

NM_013335.4:p.Q60*

hg38:chr2:219501515 C>T

Associated Papers

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

Qiu X et al.

Gastroenterology Report, 2025

40979943 (PubMed )

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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."