Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A1
Variant:p.Q277delFs
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SLC3A1

NM_000341.4:p.Q277delFs

Associated Papers

Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease.

Chin E et al.

Human Genetics, 2009

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: Cystinuria.

Eggermann T

Human Genetics, 2009

Novel human pathological mutations. Gene symbol: F9. Disease: Haemophilia B.

Niazi G et al.

Human Genetics, 2009

Novel human pathological mutations. Gene symbol: SLC7A9. Disease: Cystinuria.

Eggermann T

Human Genetics, 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."