Varaico: Literature-Extracted Genetic Variants

Gene:TTN
Variant:p.Y174C
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TTN

NM_001267550.2:p.Y174C

Associated Papers

High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.

Klauke B et al.

Plos One, 2017

29253866 (PubMed )
Supplement: pone.0189489.s006.docx

Conservation of targeting but divergence in function and quality control of peroxisomal ABC transporters: an analysis using cross-kingdom expression.

Zhang X et al.

The Biochemical Journal, 2011

Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations.

Takahashi N et al.

Journal of Neurochemistry, 2007

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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."