Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.R518C
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PKLR

NM_000298.6:p.R518C

Associated Papers

Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.

Fagius J et al.

Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2023

37460866 (PubMed )
Supplement: 10286_2023_963_MOESM3_ESM.xlsx › Shortlisted_variants

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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