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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
AFG3L2
Variant:
p.E612*
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AFG3L2
NM_006796.3:p.E612*
hg38:chr18:12340347 C>A
Frequencies & domains
Associated Papers
Novel compound heterozygous mutations in the AFG3L2 gene in a Chinese child with microcephaly, early-onset seizures, and cerebral atrophy.
Jin T et al.
Heliyon,
2023
37025825 (PubMed
)
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