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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FAS

Variant:p.L52_F58del7

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FAS

NM_000043.6:p.L52_F58del7

hg38:chr10:89003150 GCCTGCATCATGATGGCCAATT>G

Associated Papers

Expanding the clinical phenotype of FADD deficiency with a novel mutation and its role in Fas-mediated apoptotic pathway.

Setia P et al.

British Journal of Haematology, 2023

37199216 (PubMed )

Supplement: supplement_1.docx

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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."