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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
ATP12A
Variant:
p.L56_D57Splc
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ATP12A
NM_001676.7:p.L56_D57Splc
hg38:chr13:24681724 A>T
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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