Associated Papers
Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function.
Pattnaik BR et al.
Plos One, 2013
Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.
Hejtmancik JF et al.
American Journal of Human Genetics, 2008
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