Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.P292_D294delins
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ALPL

NM_000478.6:p.P292_D294delins

Associated Papers

Inborn errors in the vitamin B6 salvage enzymes associated with neonatal epileptic encephalopathy and other pathologies.

Ghatge MS et al.

Biochimie, 2021

Lethal Encephalopathy in an Infant with Hypophosphatasia despite Enzyme Replacement Therapy.

Raimann A et al.

Hormone Research in Paediatrics, 2021

Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures.

Belachew D et al.

Jimd Reports, 2013

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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."