Varaico: Literature-Extracted Genetic Variants

Gene:ARG1
Variant:p.Q19Q
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ARG1

NM_000045.4:p.Q19Q

Associated Papers

Potential role of ARG1 c.57G > A variant in Argininemia.

Li Y et al.

Genes & Genomics, 2025

ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics.

Cameron JM et al.

Genetics in Medicine Open, 2024

39669610 (PubMed )
Supplement: mmc1.xlsx › gnomAD_v2.1.1_ARG1_2022

Broad-spectrum fungal resistance in sorghum is conferred through the complex regulation of an immune receptor gene embedded in a natural antisense transcript.

Lee S et al.

The Plant Cell, 2022

35018449 (PubMed )
Supplement: koab305_supplementary_data.zip › tpc.21.00809_SupplementalDS18.xlsx › Data_Set_S6-Effect_types

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Chen X et al.

Bmc Medical Genetics, 2019

31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil
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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."