Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.R479C
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PKLR

NM_000298.6:p.R479C

Associated Papers

Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.

Tabansky I et al.

Frontiers in Immunology, 2022

36268024 (PubMed )
Supplement: Table_1.xlsx › Supplementary_Table_1

Discovery of genetic variants of the kinases that activate tenofovir among individuals in the United States, Thailand, and South Africa: HPTN067.

Figueroa DB et al.

Plos One, 2018

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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."