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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
SPO11
Variant:
p.C238R
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SPO11
NM_012444.3:p.C238R
hg38:chr20:57335875 T>C
Frequencies & domains
Associated Papers
De novo mutations in PLXND1 and REV3L cause Möbius syndrome.
Tomas-Roca L et al.
Nature Communications,
2015
26068067 (PubMed
)
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