Varaico: Literature-Extracted Genetic Variants

Gene:ANGPT1
Variant:p.R384Q
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ANGPT1

NM_001146.5:p.R384Q

Associated Papers

Insights From the First 820 Patients From the Brazilian Multicenter Registry of Hereditary Angioedema: The Key Role of Genetic Testing and Targeted Therapies.

Ferriani MPL et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2025

Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).

Riedhammer KM et al.

Kidney International, 2024

38154558 (PubMed )
Supplement: mmc2.xlsx › Family_1

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › LAN6
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."