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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
PKD1L3
Variant:
p.Q246*
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PKD1L3
NM_181536.2:p.Q246*
hg38:chr16:71986319 G>A
Frequencies & domains
Associated Papers
A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease.
Liu L et al.
Hereditas,
2023
37978541 (PubMed
)
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