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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
RAG1
Variant:
p.R831_Q833del3
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RAG1
NM_000448.3:p.R831_Q833del3
hg38:chr11:36575794 AAGGTGGCAG>A
Frequencies & domains
Associated Papers
A Novel RAG1 Mutation in a Compound Heterozygous Status in a Child With Omenn Syndrome.
Shen J et al.
Frontiers in Genetics,
2019
31632441 (PubMed
)
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