Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.G188R
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PAH

NM_000277.3:p.G188R

Associated Papers

Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5.

Kozák L et al.

Human Mutation, 2000

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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."