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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPHKAP

Variant:p.D1033delFs

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SPHKAP

NM_001142644.2:p.D1033delFs

hg38:chr2:228017756 TC>T

Associated Papers

Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay.

Refke M et al.

The British Journal of Dermatology, 2011

21718278 (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."