Associated Papers
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Novel TGM5 mutations in acral peeling skin syndrome.
van der Velden JJ et al.
Experimental Dermatology, 2015
Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.
Szczecinska W et al.
The British Journal of Dermatology, 2014
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