Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A7
Variant:p.W405*
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SLC7A7

NM_003982.4:p.W405*

Associated Papers

A novel variant in a Chinese boy with lysinuric protein intolerance: A case report and literature review.

Wang Y et al.

Heliyon, 2024

Systemic Lupus Erythematosus and Hereditary Coproporphyria: Two Different Entities Diagnosed by WES in the Same Patient.

Liu A et al.

Biomed Research International, 2022

[Clinical features of children with lysinuric protein intolerance and SLC7A7 gene mutation: an analysis of 3 cases].

Cui D et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019

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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."