Varaico: Literature-Extracted Genetic Variants

Gene:EDARADD
Variant:p.E20E
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EDARADD

NM_145861.4:p.E20E

Associated Papers

A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism.

Rencuzogullari E et al.

Genes & Genetic Systems, 2023

A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia.

Chear CT et al.

Genes, 2022

36292785 (PubMed )
Supplement: genes-13-01900-s001.zip › genes-1944565-supplementary.pdf
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