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CNGB3 gene mutation
Clinical significance:
- CNGB3 gene mutations are a cause of
a) achromatopsia 3
b) Stargardt disease type 1
Related
Cyclic-nucleotide-gated cation channel beta 3 (CNG channel beta 3, cone photoreceptor cGMP-gated channel beta subunit, cyclic nucleotide-gated cation channel modulatory subunit, CNGB3)
General
gene mutation testing; gene mutation analysis
References
Loinc