Condition: RETINITIS PIGMENTOSA 54
rs140776870
in
PCARE
gene and
RETINITIS PIGMENTOSA 54
PMID 21412943
2011 Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.
PMID 20398886
2010 Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.
PMID 20398884
2010 Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.