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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
CACNA1A
Variant:
p.C1369Y
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CACNA1A
NM_001127221.2:p.C1369Y
hg38:chr19:13261597 C>T
Frequencies & domains
Associated Papers
Two Children with Early-Onset Strokes and Intractable Epilepsy, Both with CACNA1A Mutations.
Bolte KN et al.
Child Neurology Open,
0
35497372 (PubMed
)
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