Varaico: Literature-Extracted Genetic Variants

Gene:PGBD2
Variant:p.A10P
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PGBD2

NM_170725.3:p.A10P

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."