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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLB1

Variant:p.L217P

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PLB1

NM_153021.5:p.L217P

hg38:chr2:28539130 T>C

Associated Papers

Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene.

El-Hafidi M et al.

Journal of Bioenergetics and Biomembranes, 2011

21993659 (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."