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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATAT1

Variant:p.I47insFs

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ATAT1

NM_001413067.1:p.I47insFs

hg38:chr6:30627490 T>TA

Associated Papers

Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient.

Vuillaumier-Barrot S et al.

Pediatric Research, 2019

30420707 (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."