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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP7A

Variant:p.T150_G151delFs

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ATP7A

NM_000052.7:p.T150_G151delFs

hg38:chrX:77988568 TACTG>T

Associated Papers

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

Mercimek-Mahmutoglu S et al.

Epilepsia, 2015

25818041 (PubMed )

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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."