Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.Q853*
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FLG

NM_002016.2:p.Q853*

Associated Papers

Molecular analysis of a series of Israeli families with Comèl-Netherton syndrome.

Israeli S et al.

Dermatology (basel, Switzerland), 2014

Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.

Lacroix M et al.

The Journal of Investigative Dermatology, 2012

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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."