fig2

A report and review of the recurrent c.811C>T variant and mutation spectrum of Kindler syndrome in East Asians: a diagnostic odyssey of 2 weeks versus 49 years

Figure 2. Mutation spectrum of East Asian patients with Kindler syndrome. Variants in bold were variants described in this case report in patient 1 and 2; variants in red were reported in homozygous states; variants in purple were reported in compound heterozygous with another variant.

Rare Disease and Orphan Drugs Journal
ISSN 2771-2893 (Online)
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