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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPINK5

Variant:p.P321fs

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SPINK5

NM_006846.4:p.P321fs

hg38:chr5:148097945 C>CN

Associated Papers

Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene.

Moltrasio C et al.

Genes, 2023

37239440 (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."