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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
NSD1
Variant:
p.G1973delFs
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NSD1
NM_022455.5:p.G1973delFs
hg38:chr5:177282490 GT>G
Frequencies & domains
Associated Papers
Prenatal Diagnosis of Sotos Syndrome: Integrating Chromosomal Microarray Analysis and Exome Sequencing.
Yang X et al.
Prenatal Diagnosis,
2026
41260619 (PubMed
)
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