Varaico: Literature-Extracted Genetic Variants

Gene:ALG2
Variant:p.D73H
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ALG2

NM_033087.4:p.D73H

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLRBS16_het

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: mmc5.xlsx › FiItered_Recessive_Mutations
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