Varaico: Literature-Extracted Genetic Variants

Gene:SPINK5
Variant:p.R177R
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SPINK5

NM_006846.4:p.R177R

Associated Papers

Relevance of Coding Variation in FLG And DOCK8 in Finnish Pediatric Patients with Early-Onset Moderate-To-Severe Atopic Dermatitis.

Perälä M et al.

Jid Innovations : Skin Science From Molecules to Population Health, 2023

37533579 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S1

The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.

Sprecher E et al.

The Journal of Investigative Dermatology, 2001

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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."