Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A1
Variant:p.D407N
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SLC7A1

NM_003045.5:p.D407N

Associated Papers

SLC3A2 N-glycosylation and Golgi remodeling regulate SLC7A amino acid exchangers and stress mitigation.

Zhang C et al.

The Journal of Biological Chemistry, 2023

Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia.

Concolino P et al.

Clinical Endocrinology, 2009

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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."