Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.T251A
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ACTC1

NM_005159.5:p.T251A

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.

The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.

Fernandez-Falgueras A et al.

Plos One, 2024

38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S10.xls › Sheet1

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data

Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.

Jääskeläinen P et al.

Esc Heart Failure, 2019

30775854 (PubMed )
Supplement: EHF2-6-436-s005.xlsx › Taul1

Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.

Gómez J et al.

Circulation. Cardiovascular Genetics, 2017

28356264 (PubMed )
Supplement: circgenetics_circcvg-2016-001584_supp1.pdf

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Mademont-Soler I et al.

Plos One, 2017

28771489 (PubMed )
Supplement: pone.0181465.s002.xlsx › Supplementary_Table_2
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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."