Varaico: Literature-Extracted Genetic Variants

Gene:PTGES3
Variant:p.R122C
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PTGES3

NM_006601.7:p.R122C

Associated Papers

Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.

Bueno MA et al.

Journal of Human Genetics, 2013

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.

Cai J et al.

Human Genetics, 2003

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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."