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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC7A7

Variant:p.P435L

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SLC7A7

NM_003982.4:p.P435L

hg38:chr14:22774058 G>A

Associated Papers

Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.

Gadoury-Levesque V et al.

Blood Advances, 2020

32542393 (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."