Associated Papers
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.
Sergouniotis PI et al.
Orphanet Journal of Rare Diseases, 2016
27628848 (PubMed )
Supplement: 13023_2016_505_MOESM1_ESM.pdf
Mutations in the CACNA1F and NYX genes in British CSNBX families.
Zito I et al.
Human Mutation, 2003
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