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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALOX12B

Variant:p.C410F

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ALOX12B

NM_001139.3:p.C410F

hg38:chr17:8077036 C>A

Associated Papers

A Novel VPS33B Mutation in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome.

Moon AT et al.

Pediatric Dermatology, 2017

28544027 (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."