Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.V205G
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PSAP

NM_002778.4:p.V205G

Associated Papers

GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations.

Garavaglia B et al.

Journal of Inherited Metabolic Disease, 2004

Use of altered specificity mutants to probe a specific protein-protein interaction in differentiation: the GATA-1:FOG complex.

Crispino JD et al.

Molecular Cell, 1999

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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."