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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
PURA
Variant:
p.G37_G38delFs
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PURA
NM_005859.5:p.G37_G38delFs
hg38:chr5:140114289 CGGCG>C
Frequencies & domains
Associated Papers
Patient with a novel purine-rich element binding protein A mutation.
Okamoto N et al.
Congenital Anomalies,
2017
28164378 (PubMed
)
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