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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABHD5

Variant:p.P29_T30del2

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ABHD5

NM_016006.6:p.P29_T30del2

hg38:chr3:43699312 CCCTACG>C

Associated Papers

Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma.

Çetinarslan T et al.

Pediatric Dermatology, 0

38886172 (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."