Varaico: Literature-Extracted Genetic Variants

Gene:AGL
Variant:p.D1420Splc
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AGL

NM_000642.3:p.D1420Splc

Associated Papers

Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling.

Soriano-Sexto A et al.

European Journal of Human Genetics : Ejhg, 2026

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

Yubero D et al.

Plos One, 2016

27243974 (PubMed )
Supplement: pone.0156359.s002.xlsx › general_
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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."