Varaico: Literature-Extracted Genetic Variants

Gene:CIT
Variant:p.K626E
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CIT

NM_001206999.2:p.K626E

Associated Papers

Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infection.

Li J et al.

Frontiers in Immunology, 2025

40519929 (PubMed )
Supplement: Table2.xlsx › info_analysis

Whole genome sequencing identifies genetic variants associated with neurogenic inflammation in rosacea.

Deng Z et al.

Nature Communications, 2023

37402769 (PubMed )
Supplement: 41467_2023_39761_MOESM5_ESM.xlsx › original

In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy.

Li N et al.

Brain : a Journal of Neurology, 2022

34077496 (PubMed )
Supplement: awab209_supplementary_data.zip › brain-2020-02299-File012.xlsx › CP-related_mutations
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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."