Varaico: Literature-Extracted Genetic Variants

Gene:FERMT3
Variant:p.I241T
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FERMT3

NM_031471.6:p.I241T

Associated Papers

Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.

Ashton GH et al.

The Journal of Investigative Dermatology, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."