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C2orf71 gene

Known as: C2orf71, FLJ34931, CHROMOSOME 2 OPEN READING FRAME 71 
National Institutes of Health

Related topics

Related topics

1 relation
RETINITIS PIGMENTOSA 54

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Novel mutations in c2orf71 causing an early onset form of cone-rod dystrophy: A molecular diagnosis after 20 years of clinical follow-up
Purpose Cone rod-dystrophies (CRDs) are pigmentary retinopathies mainly involving cones. CRDs typically present with decreased… 
2017
2017
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.
Purpose To define the phenotype of C2orf71 associated retinopathy and to present novel mutations in this gene. Methods A… 
2015
2015
Investigating the role of C2orf71 in the pathogenesis of retinitis pigmentosa
2010
2010
Mutations of a Novel Gene, C2ORF71, Cause Autosomal Recessive Retinitis Pigmentosa
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