Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A1
Variant:p.M149I
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SLC1A1

NM_004170.6:p.M149I

Associated Papers

A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.

Park KJ et al.

Annals of Laboratory Medicine, 2016

27578510 (PubMed )
Supplement: alm-36-561-s011.pdf

A hydrophobic domain in glutamate transporters forms an extracellular helix associated with the permeation pathway for substrates.

Leighton BH et al.

The Journal of Biological Chemistry, 2002

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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."