W210C
· 3 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | W210C | “The previously reported missense mutation W210C in MRE11 gene was identified in two families with autosomal recessive ataxia and oculomotor apraxia.” | 0.82 | literature_variant_regex_v2 |
| variant | W210C | “All individuals were from three unrelated consanguineous Saudi Arabian families harboring an MRE11 mutation (W210C).” | 0.82 | literature_variant_regex_v2 |
| variant | W210C | “All patients are homozygous for a novel missense mutation (630G-->C, W210C) of the MRE11 gene.” | 0.82 | literature_variant_regex_v2 |