Varaico: Literature-Extracted Genetic Variants

Gene:DHX38
Variant:p.E301K
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DHX38

NM_014003.4:p.E301K

Associated Papers

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s002.xlsx › All_variants_in_candidate_genes

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

Tiwari A et al.

Scientific Reports, 2016

27353947 (PubMed )
Supplement: srep28755-s1.pdf
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