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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PEX12

Variant:p.F256fs

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PEX12

NM_000286.3:p.F256fs

hg38:chr17:35576094 G>GN

Associated Papers

A novel mutation in the PEX12 gene causing a peroxisomal biogenesis disorder.

Konkoľová J et al.

Molecular Biology Reports, 2015

26094004 (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."