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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MATN2

Variant:p.R430H

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MATN2

NM_002380.5:p.R430H

hg38:chr8:98003745 G>A

Associated Papers

Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families.

Ben-Ali M et al.

Journal of Clinical Immunology, 2020

31696364 (PubMed )

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