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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
NR4A1
Variant:
p.A214P
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NR4A1
NM_173157.3:p.A214P
hg38:chr12:52054968 G>C
Frequencies & domains
Associated Papers
Two frequent missense mutations in Pendred syndrome.
Van Hauwe P et al.
Human Molecular Genetics,
1998
9618166 (PubMed
)
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