A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex (Q91943197)
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scientific article published on 26 June 2019
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex |
scientific article published on 26 June 2019 |
Statements
A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex (English)
Rebecca K Tryon
Sarah M Preusser
Megan J Riddle
Douglas R Keene
Matthew Bower
Bharat Thyagarajan