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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA12

Variant:p.N1060Splc

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ABCA12

NM_173076.3:p.N1060Splc

hg38:chr2:214997815 A>C

Associated Papers

Diagnostic next generation sequencing in neonatal erythroderma.

Cuperus E et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2021

33103336 (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."