Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS7
Variant:p.H334Q
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ADAMTS7

NM_014272.5:p.H334Q

Associated Papers

Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.

Marianski K et al.

Human Genetics, 2025

41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2

A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report.

Szczawinska-Poplonyk A et al.

Frontiers in Immunology, 2020

32231661 (PubMed )
Supplement: Data_Sheet_1.pdf
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