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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
PRKAR1A
Variant:
p.M236del1
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PRKAR1A
NM_002734.5:p.M236del1
hg38:chr17:68525909 CATG>C
Frequencies & domains
Associated Papers
In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay.
Greene EL et al.
Human Mutation,
2008
18241045 (PubMed
)
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