Varaico: Literature-Extracted Genetic Variants

Gene:EDARADD
Variant:p.R108insFs
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EDARADD

NM_145861.4:p.R108insFs

Associated Papers

Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature.

Kablan A et al.

Italian Journal of Pediatrics, 2024

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