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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
MSL3
Variant:
p.L314fs
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MSL3
NM_078629.4:p.L314fs
hg38:chrX:11765498 T>TN
Frequencies & domains
Associated Papers
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.
Basilicata MF et al.
Nature Genetics,
2018
30224647 (PubMed
)
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