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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCB6

Variant:p.S447L

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ABCB6

NM_001349828.2:p.S447L

hg38:chr2:219213926 G>A

Associated Papers

Identification of novel genetic variations in ABCB6 and GRN genes associated with HIV-associated lipodystrophy.

Singh H et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

38354999 (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."