Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.F51fs
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GJB4

NM_153212.3:p.F51fs

Associated Papers

Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.

Fioretti T et al.

Biomedicines, 2024

38791074 (PubMed )
Supplement: biomedicines-12-01112-s001.zip › biomedicines-2972903-SM_final › Supplementary_files › SUPPLEMENTARY_Table_S1.pdf

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis.

Charfeddine C et al.

Plos One, 2021

34669720 (PubMed )
Supplement: pone.0258777.s002.xlsx › Feuil1
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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."