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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
SLC25A2
Variant:
p.R275Q
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SLC25A2
NM_031947.4:p.R275Q
hg38:chr5:141303042 C>T
Frequencies & domains
Associated Papers
A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome.
Torisu H et al.
Brain & Development,
2006
16376511 (PubMed
)
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