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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATAD3A

Variant:p.E208_E215del0

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ATAD3A

NM_018188.5:p.E208_E215del0

hg38:chr1:1518946 GGAAGCAGGAGGAGTCCGTGCA>G

Associated Papers

Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion of the clinical spectrum.

Tawfik CA et al.

Ophthalmic Genetics, 2023

36856321 (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."