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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FHL1

Variant:p.G230Splc

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FHL1

NM_001159700.2:p.G230Splc

hg38:chrX:136209863 C>T

Associated Papers

Mutation analysis of the candidate genes SCN1B-4B, FHL1, and LMNA in patients with arrhythmogenic right ventricular cardiomyopathy.

Refsgaard L et al.

Applied & Translational Genomics, 2012

27896052 (PubMed )

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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."