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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ETFDH

Variant:p.Q417*

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ETFDH

NM_004453.4:p.Q417*

hg38:chr4:158703555 C>T

Associated Papers

NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.

Invernizzi F et al.

Genes, 2023

37510298 (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."