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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
TCEAL1
Variant:
p.Q13E
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TCEAL1
NM_004780.3:p.Q13E
hg38:chrX:103629953 C>G
Frequencies & domains
Associated Papers
HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing.
Imai-Okazaki A et al.
Human Mutation,
2017
28722338 (PubMed
)
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