Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.A22V
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ADSL

NM_000026.4:p.A22V

Associated Papers

Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.

Mastrangelo M et al.

Frontiers in Neurology, 2022

Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis.

Mastrangelo M et al.

Molecular Genetics and Metabolism Reports, 2019

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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."