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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FANCA

Variant:p.Q490_V491Splc

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FANCA

NM_000135.4:p.Q490_V491Splc

hg38:chr16:89783103 C>T

Associated Papers

Novel Variations of FANCA Gene Provokes Fanconi Anemia: Molecular Diagnosis in a Special Chinese Family.

Li N et al.

Journal of Pediatric Hematology/oncology, 2018

29702541 (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."