p.G61E
· 3 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.G61E | “Eight of these had homozygous p.G61E mutation and one had a silent (no amino acid change) sequence change.” | 0.95 | hgvs_regex_v1 |
| variant | p.G61E | “The first patient, the product of a consanguineous marriage, showed a homozygous misssense mutation g.3987G>A (p.G61E).” | 0.95 | hgvs_regex_v1 |
| variant | p.G61E | “The common Saudi mutation p.G61E occurred in most cases (38 homozygous, 8 compound heterozygous).” | 0.95 | hgvs_regex_v1 |