Varaico: Literature-Extracted Genetic Variants

Gene:LAT
Variant:p.V174insFs
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LAT

NM_001014987.2:p.V174insFs

Associated Papers

Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.

Font MA et al.

Human Molecular Genetics, 2001

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.

Feliubadaló L et al.

Nature Genetics, 1999

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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."