Varaico: Literature-Extracted Genetic Variants

Gene:ATXN7
Variant:p.A72A
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ATXN7

NM_001377405.1:p.A72A

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 › Autosomal_dominant__N_11_
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