Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A7
Variant:p.G79R
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SLC7A7

NM_003982.4:p.G79R

Associated Papers

Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.

Ajayi JA et al.

Current Research in Physiology, 2025

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

Wang Y et al.

Heliyon, 2024

Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Dai D et al.

Archives of Disease in Childhood, 2022

34134972 (PubMed )
Supplement: archdischild-2021-322058supp001.pdf

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

Liu A et al.

Biomed Research International, 2022

Biochemical and molecular characteristics of Malaysian patients with lysinuric protein intolerance.

Habib A et al.

The Malaysian Journal of Pathology, 2016

Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance.

Habib A et al.

European Journal of Pediatrics, 2013

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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."