Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.K156delFs
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ATP7A

NM_000052.7:p.K156delFs

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

13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.

de Gemmis P et al.

Metabolic Brain Disease, 2017

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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."