Varaico: Literature-Extracted Genetic Variants

Gene:ST14
Variant:p.E170K
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ST14

NM_021978.4:p.E170K

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_S2.pdf

Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2.

Frommherz L et al.

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

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.

Nava C et al.

Amino Acids, 2015

26215737 (PubMed )
Supplement: 726_2015_2057_MOESM2_ESM.xlsx › Sup_Table_3
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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."