Varaico: Literature-Extracted Genetic Variants

Gene:ITGA8
Variant:p.D467Splc
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ITGA8

NM_003638.3:p.D467Splc

Associated Papers

Exome-First Strategy in Adult Patients With CKD: A Cohort Study.

Doreille A et al.

Kidney International Reports, 2023

36938085 (PubMed )
Supplement: mmc2.xlsx › Liste_VUS

Bi-allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology.

Gómez-Conde S et al.

Clinical Genetics, 2023

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