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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
HAVCR1
Variant:
p.Y38C
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HAVCR1
NM_001173393.3:p.Y38C
hg38:chr5:157055467 T>C
Frequencies & domains
Associated Papers
Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms.
Kober DL et al.
Elife,
2016
27995897 (PubMed
)
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