Varaico: Literature-Extracted Genetic Variants

Gene:TTN
Variant:p.E748E
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TTN

NM_001267550.2:p.E748E

Associated Papers

Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients.

Lippi M et al.

Biomolecules, 2022

36008935 (PubMed )
Supplement: biomolecules-12-01043-s001.zip › biomolecules-1806599-supplementary-proof_done-update.pdf

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Pongor LS et al.

Scientific Reports, 2020

32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › HR-deficient__BRCA2_mutant

An analysis of mutational signatures of synonymous mutations across 15 cancer types.

Bin Y et al.

Bmc Medical Genetics, 2019

31815613 (PubMed )
Supplement: 12881_2019_926_MOESM2_ESM.xlsx › Neutral_synonymous_mutations

Uniparental disomy causes deficiencies of vitamin K-dependent proteins.

Dasi MA et al.

Journal of Thrombosis and Haemostasis : Jth, 2016

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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."