Varaico: Literature-Extracted Genetic Variants

Gene:ITGB5
Variant:p.L94V
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ITGB5

NM_002213.5:p.L94V

Associated Papers

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.

Zhou C et al.

Chinese Medical Journal, 2023

37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET

DLG3 variants caused X-linked epilepsy with/without neurodevelopmental disorders and the genotype-phenotype correlation.

He YY et al.

Frontiers in Molecular Neuroscience, 2023

38249294 (PubMed )
Supplement: Table_2.XLSX › Sheet1
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