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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPINK5

Variant:p.E369_Y370delFs

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SPINK5

NM_006846.4:p.E369_Y370delFs

hg38:chr5:148100467 AATAT>A

Associated Papers

Two novel variants of SPINK5 mutations in a boy with ichthyosis linearis circumflexa and atopy.

Gambichler T et al.

Clinical and Experimental Dermatology, 2025

40257101 (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."