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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
LIG4
Variant:
p.N56K
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LIG4
NM_206937.2:p.N56K
hg38:chr13:108211101 G>C
Frequencies & domains
Associated Papers
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.
Dutrannoy V et al.
Human Mutation,
2010
20597108 (PubMed
)
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