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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FASTKD2

Variant:p.R294Splc

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FASTKD2

NM_001136193.2:p.R294Splc

hg38:chr2:206771181 G>A

Associated Papers

Challenges in Genetic Diagnosis of Mitochondrial Diseases: What Can Functional Genomics' Studies Do?

Simões M et al.

Endocrine, Metabolic & Immune Disorders Drug Targets, 2023

38111113 (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."