Varaico: Literature-Extracted Genetic Variants

Gene:PSPH
Variant:p.G90fs
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PSPH

NM_004577.4:p.G90fs

Associated Papers

On the phenotypic spectrum of serine biosynthesis defects.

El-Hattab AW et al.

Journal of Inherited Metabolic Disease, 2016

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.

Acuna-Hidalgo R et al.

American Journal of Human Genetics, 2014

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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."