Varaico: Literature-Extracted Genetic Variants

Gene:LARP4B
Variant:p.R495Splc
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LARP4B

NM_015155.3:p.R495Splc

Associated Papers

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.

Rainger J et al.

Human Mutation, 2017

28493397 (PubMed )
Supplement: HUMU-38-942-s002.xlsx › TableS1_DNM_Details
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