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Mendeliome v0.871 RPL13 Zornitza Stark Marked gene: RPL13 as ready
Mendeliome v0.871 RPL13 Zornitza Stark Gene: rpl13 has been classified as Green List (High Evidence).
Mendeliome v0.871 RPL13 Zornitza Stark Classified gene: RPL13 as Green List (high evidence)
Mendeliome v0.871 RPL13 Zornitza Stark Gene: rpl13 has been classified as Green List (High Evidence).
Mendeliome v0.870 RPL13 Zornitza Stark gene: RPL13 was added
gene: RPL13 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL13 were set to 31630789
Phenotypes for gene: RPL13 were set to Spondyloepimetaphyseal Dysplasia with Severe Short Stature
Review for gene: RPL13 was set to GREEN
Added comment: Four unrelated individuals reported with de novo variants.
Sources: Literature