omia.variant:755
Genomic description: NC_040278.1:g.[56600938dup;56600945_56600947del;56600948C>A]
Coding DNA description: NM_001114767.1:c.[301G>T;302_304delCTA;311dup]
Protein description: NP_001108239.1:p.(A101Cfs*113)
Gene: BMP15
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