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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
ATP4A
Variant:
p.I52_N53Splc
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ATP4A
NM_000704.3:p.I52_N53Splc
hg38:chr19:35563380 T>A
Frequencies & domains
Associated Papers
Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis.
Kornak U et al.
Human Molecular Genetics,
2000
10942435 (PubMed
)
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