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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLTP

Variant:p.F33delFs

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GLTP

NM_016433.4:p.F33delFs

hg38:chr12:109880276 GA>G

Associated Papers

Biallelic GLTP mutations cause nonsyndromic epidermal differentiation disorder via disrupted epidermal glucosylceramide transport.

Zhang Z et al.

The Journal of Clinical Investigation, 2026

41642656 (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."