Varaico: Literature-Extracted Genetic Variants

Gene:PSPH
Variant:p.V44G
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PSPH

NM_004577.4:p.V44G

Associated Papers

L-serine deficiency: on the properties of the Asn133Ser variant of human phosphoserine phosphatase.

Pollegioni L et al.

Scientific Reports, 2024

Juvenile-onset PSAT1-related neuropathy: A milder phenotype of serine deficiency disorder.

Shen Y et al.

Frontiers in Genetics, 2022

The first insight into the genetic structure of the population of modern Serbia.

Drljaca T et al.

Scientific Reports, 2021

Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures.

Byers HM et al.

Jimd Reports, 2016

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