Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.C397*
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ETFDH

NM_001281738.1:p.C397*

Associated Papers

Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.

Kucińska-Chahwan A et al.

Genes, 2022

Prenatal diagnosis of glutaric acidemia type 2 with the use of exome sequencing - an up-to-date review and new case report.

Kucinska-Chahwan AM et al.

Ginekologia Polska, 2021

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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."