Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.T235I
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FLG

NM_002016.2:p.T235I

Associated Papers

Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions.

Rossel SVJ et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

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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."