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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA12

Variant:p.E2368_T2369Splc

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ABCA12

NM_173076.3:p.E2368_T2369Splc

hg38:chr2:214948590 A>T

Associated Papers

A novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay.

Zhu L et al.

Frontiers in Pediatrics, 2024

39748812 (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."