| Accession | HRS273184 |
|---|---|
| BioSample Accession | SAMC1867391 |
| Individual accession | HRI142657 |
| Study accession | HRA001169 |
| Sample name | P2ZM |
| Title | LS2ZM |
| Collection date | 2018-02-09 |
| Sample Type | Disease |
| Description | The mother of patient 2 had a splicing variant c.2257-2A>T in OCRL intron 20 (NM_000276.3). Her sequencing result showed a heterozygous mutation. |