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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CARD14

Variant:p.L590F

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CARD14

NM_001366385.1:p.L590F

hg38:chr17:80198508 C>T

Associated Papers

A homozygous loss-of-function variant in the MPO gene is associated with generalized pustular psoriasis.

Onitsuka M et al.

The Journal of Dermatology, 2023

36585391 (PubMed )

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