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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FBXL4

Variant:p.W354S

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FBXL4

NM_001278716.2:p.W354S

hg38:chr6:98905468 C>G

Associated Papers

Entero-encephalopathy due to FBXL4-related mtDNA depletion syndrome.

Finsterer J

The Turkish Journal of Pediatrics, 2021

34738379 (PubMed )

Different clinical presentation in a patient with two novel pathogenic variants of the FBXL4 gene.

Köse E et al.

The Turkish Journal of Pediatrics, 2020

32779419 (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."