Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.L215L
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ABCD1

NM_000033.4:p.L215L

Associated Papers

Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.

Zou W et al.

Journal of Assisted Reproduction and Genetics, 2024

Dosage Compensation in Females with X-Linked Metabolic Disorders.

Juchniewicz P et al.

International Journal of Molecular Sciences, 2021

33925963 (PubMed )
Supplement: ijms-22-04514-s001.zip › Supplementary_File_Table_S2.pdf

The Roles of β-Oxidation and Cofactor Homeostasis in Peroxisome Distribution and Function in Arabidopsis thaliana.

Rinaldi MA et al.

Genetics, 2016

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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."