Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.N1007S
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RAG1

NM_000448.3:p.N1007S

Associated Papers

RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.

Haque N et al.

Iscience, 2023

37854700 (PubMed )
Supplement: mmc7.xlsx › S6B-RAG1_Predicted

Case report: Germline RECQL mutation potentially involved in hereditary predisposition to acute leukemia.

Yuan W et al.

Frontiers in Oncology, 2023

36998465 (PubMed )
Supplement: Table_1.xlsx › 3._germline_mutations_in_case_2

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.

Tong W et al.

Scientific Reports, 2018

29581464 (PubMed )
Supplement: 41598_2018_23503_MOESM1_ESM.xls › P30
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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."