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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
CNOT8
Variant:
p.S158Splc
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CNOT8
NM_001301073.2:p.S158Splc
hg38:chr5:154871728 A>G
Frequencies & domains
Associated Papers
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
Stuart BD et al.
Nature Genetics,
2015
25848748 (PubMed
)
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