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Author

M. Reddy

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Open access Sep 2026

STOML1 as an Exploratory Candidate Gene for Autosomal Dominant Iris and Chorioretinal Coloboma in a British Family

STOML1 is proposed as an exploratory candidate gene for isolated ocular coloboma, requiring replication in independent families and functional validation, and the recurrent ERCC6L2 nonsense variant is reported as an incidental finding of potential haematological relevance.

V. Berry, Manav B. Ponnekanti, Nancy Aychoua et al. · 0 citations

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