Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.R443W
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PKLR

NM_000298.6:p.R443W

Associated Papers

Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya.

Mungai LNW et al.

Orphanet Journal of Rare Diseases, 2025

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
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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."