Varaico: Literature-Extracted Genetic Variants

Gene:PLN
Variant:p.Q22fs
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PLN

NM_002667.5:p.Q22fs

Associated Papers

Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.

García Hernandez S et al.

Circulation, 2025

40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.

Specification of frequency criteria for secondary findings genes to improve variant classification concordance.

Johnston JJ et al.

Biorxiv : the Preprint Server for Biology, 2025

41000626 (PubMed )
Supplement: media-1.xlsx › Table_S1_Data_and_Reference
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