Varaico: Literature-Extracted Genetic Variants

Gene:PRAMEF6
Variant:p.K200E
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PRAMEF6

NM_001010889.2:p.K200E

Associated Papers

Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder.

Mattioli F et al.

Npj Genomic Medicine, 2021

34764295 (PubMed )
Supplement: 41525_2021_255_MOESM1_ESM.pdf
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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."