Varaico: Literature-Extracted Genetic Variants

Gene:TTN
Variant:p.E35927_W35930delins
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TTN

NM_001267550.2:p.E35927_W35930delins

Associated Papers

TTN-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant.

Õunap K et al.

Neurology. Genetics, 2024

TTN novel splice variant in familial dilated cardiomyopathy and splice variants review: a case report.

León P et al.

Frontiers in Cardiovascular Medicine, 2024

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table1.xlsx › Sheet1

Genotype-phenotype correlations in recessive titinopathies.

Savarese M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Copy number variation analysis increases the diagnostic yield in muscle diseases.

Välipakka S et al.

Neurology. Genetics, 2017

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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."