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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPINK5

Variant:p.L814Splc

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SPINK5

NM_006846.4:p.L814Splc

hg38:chr5:148120141 G>A

Associated Papers

Neonatal Netherton syndrome: Dermoscopic clues for early diagnosis.

Pikulpol S et al.

Jaad Case Reports, 2026

41657524 (PubMed )

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