Varaico: Literature-Extracted Genetic Variants

Gene:GPT2
Variant:p.Q80E
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GPT2

NM_133443.4:p.Q80E

Associated Papers

GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.

Ouyang Q et al.

Human Genetics, 2019

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.

Harripaul R et al.

Molecular Psychiatry, 2018

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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."