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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TUFT1

Variant:p.A20_G21Splc

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TUFT1

NM_020127.3:p.A20_G21Splc

hg38:chr1:151540427 G>A

Associated Papers

Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.

Jackson A et al.

The British Journal of Dermatology, 2023

36689522 (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."