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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
ATG5
Variant:
p.E178D
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ATG5
NM_004849.4:p.E178D
hg38:chr6:106248189 T>A
Frequencies & domains
Associated Papers
Identification of the zinc binding ligands and the catalytic residue in human aspartoacylase, an enzyme involved in Canavan disease.
Herga S et al.
Febs Letters,
2006
17027983 (PubMed
)
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