Varaico: Literature-Extracted Genetic Variants

Gene:CSRP3
Variant:p.V127I
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CSRP3

NM_003476.5:p.V127I

Associated Papers

LIM domain-wide comprehensive virtual mutagenesis provides structural rationale for cardiomyopathy mutations in CSRP3.

Chauhan PK et al.

Scientific Reports, 2022

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.

Tadros R et al.

Nature Genetics, 2021

33495596 (PubMed )
Supplement: EMS114661-supplement-Supplementary_Tables.xlsx › ST2

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S3

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

Walsh R et al.

European Heart Journal, 2017

28082330 (PubMed )
Supplement: ehw603_supplementary_tables_s1_s5_s7.xlsx › Table_S7

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1B
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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."