Varaico: Literature-Extracted Genetic Variants

Gene:DHX57
Variant:p.G848V
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DHX57

NM_198963.3:p.G848V

Associated Papers

Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias.

Bogenschutz EL et al.

Hgg Advances, 2020

33263113 (PubMed )
Supplement: mmc4.xlsx › De_Novo_Coding_Variants
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