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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABHD5

Variant:p.V196_W197delFs

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ABHD5

NM_016006.6:p.V196_W197delFs

hg38:chr3:43711789 TTTGG>T

Associated Papers

Ichthyosis, cataracts, and motor delay in an infant: A case of Chanarin-Dorfman syndrome.

Luu Y et al.

Pediatric Dermatology, 0

36709747 (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."