Varaico: Literature-Extracted Genetic Variants

Gene:PFKM
Variant:p.R246*
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PFKM

NM_000289.6:p.R246*

Associated Papers

Genetics of Exertional Heat Illness: Revealing New Associations and Expanding Heterogeneity.

Sambuughin N et al.

International Journal of Molecular Sciences, 2024

A Complement Factor B Mutation in a Chinese Family with Atypical Hemolytic Uremic Syndrome: A Case Report and Systematic Review.

Peng W et al.

Case Reports in Nephrology and Dialysis, 0

41064627 (PubMed )
Supplement: Supplementary_material-Suppl.7-s7.xlsx › Supplementary_table_5
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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."