Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A10
Variant:p.G307R
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SLC7A10

NM_019849.3:p.G307R

Associated Papers

Dual Role of Dysfunctional Asc-1 Transporter in Distinct Human Pathologies, Human Startle Disease, and Developmental Delay.

Drehmann P et al.

Eneuro, 2023

The c.126C>A(p.(Cys42Ter)) SLC7A10 nonsense variant is a candidate causative variant for paradoxical pseudomyotonia in English Cocker and Springer Spaniels.

Van Poucke M et al.

Animal Genetics, 2023

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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."