Varaico: Literature-Extracted Genetic Variants

Gene:BBS2
Variant:p.E115_V116Splc
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BBS2

NM_031885.5:p.E115_V116Splc

Associated Papers

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Li W et al.

Investigative Ophthalmology & Visual Science, 2023

36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
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