Varaico: Literature-Extracted Genetic Variants

Gene:TTN
Variant:p.R22427*
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TTN

NM_001267550.2:p.R22427*

Associated Papers

Cardiomyopathies, heart rhythm and conduction disorders as phenotypic manifestation of genetic variants in large cohort of cardiac patients: results of whole-genome study.

Rimskaya EM et al.

Gene, 2026

Cocaine, amphetamine, or titin: Unraveling the genetic underpinnings of dilated cardiomyopathy.

Panjiyar BK et al.

Clinical Case Reports, 2024

Enrichment of titin-truncating variants in exon 327 in dilated cardiomyopathy and its relevance to reduced nonsense-mediated mRNA decay efficiency.

Kim YG et al.

Frontiers in Genetics, 2022

36685919 (PubMed )
Supplement: Table2.XLSX › Table_S5

A spectrum of clinical severity of recessive titinopathies in prenatal.

Qi Y et al.

Frontiers in Genetics, 2022

Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.

Coban-Akdemir ZH et al.

American Journal of Medical Genetics. Part A, 2020

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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."