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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
TAPT1
Variant:
p.R62delFs
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TAPT1
NM_153365.3:p.R62delFs
hg38:chr4:16226271 GGC>G
Frequencies & domains
Associated Papers
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract.
Jarayseh T et al.
Human Genetics,
2023
36697720 (PubMed
)
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