Mutation Report for: R693VfsX76_human-LIPE
R693VfsX76_human-LIPE | Gene_locus | human-LIPE |
| Mode_of_mutation | Natural mutant |
| Paper | Sollier_2021_Eur.J.Endocrinol_184_155 |
| Comment | Patient B was compound heterozygous for two frameshift variants: c.1890_1891del; p.(Leu631Glyfs*57) L631GfsX57, and c.2077del; p.(Arg693Valfs*76) R693VfsX76 |
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