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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KPNA7

Variant:p.A324V

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KPNA7

NM_001145715.3:p.A324V

hg38:chr7:99185092 G>A

Associated Papers

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.

Cooper HM et al.

Human Molecular Genetics, 2017

28158749 (PubMed )

Supplement: ddx042_Supp.zip › Supplementary_materials_HC.docx

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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."