Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A13
Variant:p.V249M
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SLC7A13

NM_138817.3:p.V249M

Associated Papers

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study.

Mayayo-Vallverdú C et al.

International Journal of Molecular Sciences, 2023

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