Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A2
Variant:p.M1L
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SLC3A2

NM_001013251.3:p.M1L

Associated Papers

Genetic diagnosis in Hemophilia A from southern China: five novel mutations and one preimplantation genetic analysis.

Chen J et al.

International Journal of Laboratory Hematology, 2017

Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.

Sperandeo MP et al.

Human Mutation, 2008

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.

Sperandeo MP et al.

American Journal of Human Genetics, 2000

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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."