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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC1A2

Variant:p.E307K

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SLC1A2

NM_004171.4:p.E307K

hg38:chr11:35292459 C>T

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

37903619 (PubMed )

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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."