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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
TRIM4
Variant:
p.L94Q
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TRIM4
NM_033091.3:p.L94Q
hg38:chr7:99919121 A>T
Frequencies & domains
Associated Papers
Whole-exome sequencing identifies a homozygous donor splice-site mutation in STAG3 that causes primary ovarian insufficiency.
He WB et al.
Clinical Genetics,
2018
28393351 (PubMed
)
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