Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA7
Variant:p.D191N
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SERPINA7

NM_000354.6:p.D191N

Associated Papers

Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency.

Fang Y et al.

Molecular Genetics & Genomic Medicine, 2021

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Xiang J et al.

Scientific Reports, 2020

31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
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