Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.G564Splc
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ETFDH

NM_004453.4:p.G564Splc

Associated Papers

De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III).

Oh RY et al.

American Journal of Medical Genetics. Part A, 2023

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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."