Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.Y588F
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MYH7

NM_000257.4:p.Y588F

Associated Papers

Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.

Dzhumaniiazova I et al.

Genes, 2025

41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S1

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA et al.

American Journal of Human Genetics, 2023

37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S8

Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy.

Kurzlechner LM et al.

Journal of Personalized Medicine, 2022

35629155 (PubMed )
Supplement: jpm-12-00733-s001.zip › HCM_ES_Variants_Manuscript__Supplemental_Table_S1.xlsx › MYH7

Cardiomyopathy and Preeclampsia.

Gammill HS et al.

Circulation, 2018

30021846 (PubMed )
Supplement: circ_circulationaha-2017-031527_supp1.pdf

Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.

Hauser NS et al.

Molecular Genetics & Genomic Medicine, 2018

29368431 (PubMed )
Supplement: MGG3-6-200-s002.xlsx › Supplemental_Table_2

Investigating the Genetic Causes of Sudden Unexpected Death in Children Through Targeted Next-Generation Sequencing Analysis.

Dewar LJ et al.

Circulation. Cardiovascular Genetics, 2017

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Alamo L et al.

Elife, 2017

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

Results of comprehensive diagnostic work-up in 'idiopathic' dilated cardiomyopathy.

Broch K et al.

Open Heart, 0

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