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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
TMEM114
Variant:
p.P59L
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TMEM114
NM_001146336.2:p.P59L
hg38:chr16:8589663 G>A
Frequencies & domains
Associated Papers
A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q.
Bennett TM et al.
Molecular Vision,
2011
21897748 (PubMed
)
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