Table 7.

Laboratory Technical Considerations for Genes Causing Cockayne Syndrome

Gene 1Technical Consideration
ERCC6 Most variants are predicted loss-of-function variants. Twenty-two missense variants have been reported to date [Calmels et al 2018].
ERCC8 Most variants are predicted loss-of-function variants. Thirteen missense variants have been reported to date [Calmels et al 2018].
1.

Genes in alphabetic order

From: Cockayne Syndrome

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