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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LIPH

Variant:p.D191delFs

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LIPH

NM_139248.3:p.D191delFs

hg38:chr3:185527539 GT>G

Associated Papers

Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.

Kim MJ et al.

Orphanet Journal of Rare Diseases, 2024

39244550 (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."