Varaico: Literature-Extracted Genetic Variants

Gene:ATMIN
Variant:p.V521I
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ATMIN

NM_015251.3:p.V521I

Associated Papers

Multi-omic analyses of a twin pair with mirror image cleft lip identifies pathogenic variant in FGF20 modified by differential methylation upstream of ZFP57.

Awotoye W et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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

Longitudinal Analyses of Mutational Subclonal Architecture and Tumor Subtypes in Recurrent Bladder Cancer.

Ryu D et al.

International Journal of Molecular Sciences, 2023

37176124 (PubMed )
Supplement: ijms-24-08418-s001.zip › Supplementary_Table_S2.xlsx › MUT_P5
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