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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
MAGEL2
Variant:
p.Q628*
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MAGEL2
NM_019066.5:p.Q628*
hg38:chr15:23645861 G>A
Frequencies & domains
Associated Papers
Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf-Yang syndrome.
Alavanda C et al.
Clinical Genetics,
2023
36843439 (PubMed
)
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