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1 records shown · first 60Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.
PMID 20300561 | PMCID PMC2838735 · Molecular vision · 2010 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.R651X | “One patient with a known MERTK mutation (p.R651X) was identified using the Asper Ophthalmics Leber congenital amaurosis chip.” | 0.95 | hgvs_regex_v1 |
| gene | MERTK | “Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.” | 0.98 | hgnc_dict_v1 |
| gene | RGR | “The positional candidate genes protocadherin 21 (PCDH21), retinal G protein-coupled receptor (RGR), and MERTK were polymerase chain reaction (PCR) amplified and sequenced.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinal dystrophy | “PURPOSE: To report the clinical phenotype in patients with a retinal dystrophy associated with novel mutations in the MER tyrosine kinase (MERTK) gene.” | 0.98 | phenotype_alias_lexicon_v2 |