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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
BDP1
Variant:
p.Q93H
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BDP1
NM_018429.3:p.Q93H
hg38:chr5:71458645 G>C
Frequencies & domains
Associated Papers
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).
Wirth B
Human Mutation,
2000
10679938 (PubMed
)
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