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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AFG2A

Variant:p.A526delFs

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AFG2A

NM_145207.3:p.A526delFs

hg38:chr4:122947351 CT>C

Associated Papers

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency.

Puusepp S et al.

European Journal of Human Genetics : Ejhg, 2018

29343804 (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."