Varaico: Literature-Extracted Genetic Variants

Gene:ABCA12
Variant:p.N205T
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ABCA12

NM_173076.3:p.N205T

Associated Papers

Phenotype-genotype correlation in a cohort of 15 patients with hereditary ichthyosis.

Ma YJ et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026

Genomic landscape of paired primary and peritoneal metastatic lesions in gastric cancer highlights evolutionary dynamics and mutational drivers.

Li S et al.

Journal of Advanced Research, 2025

40436141 (PubMed )
Supplement: 1-s2.0-S2090123225003625-mmc2.xlsx › Table_S3

Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish.

Lu S et al.

Theranostics, 2021

33456573 (PubMed )
Supplement: thnov11p2788s1.pdf
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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."