Varaico: Literature-Extracted Genetic Variants

Gene:DNHD1
Variant:p.R2233C
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DNHD1

NM_144666.3:p.R2233C

Associated Papers

Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.

Merico D et al.

Npj Genomic Medicine, 2021

34795304 (PubMed )
Supplement: 41525_2021_263_MOESM2_ESM.xlsx › Homozygous__N_10_
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