Varaico: Literature-Extracted Genetic Variants

Gene:LPIN2
Variant:p.V140I
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LPIN2

NM_001375808.2:p.V140I

Associated Papers

Human Inborn Errors of Immunity in Pyoderma Gangrenosum: A Systematic Review.

Oprea Y et al.

American Journal of Clinical Dermatology, 2024

LPIN2 gene mutation in a patient with overlapping neutrophilic disease (pyoderma gangrenosum and aseptic abscess syndrome).

Marzano AV et al.

Jaad Case Reports, 2018

Autoinflammation in pyoderma gangrenosum and its syndromic form (pyoderma gangrenosum, acne and suppurative hidradenitis).

Marzano AV et al.

The British Journal of Dermatology, 2017

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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."