Varaico: Literature-Extracted Genetic Variants

Gene:GPT
Variant:p.L208L
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GPT

NM_005309.3:p.L208L

Associated Papers

Monogenic lupus with neuroregression in an infant due to rare compound heterozygous variants in C1QA gene: Case-based review.

Jain H et al.

Modern Rheumatology Case Reports, 2025

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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."