Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A7
Variant:p.G86E
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SLC7A7

NM_003982.4:p.G86E

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

The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis.

Avci Durmusalioglu E et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2021

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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."