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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATR

Variant:p.L987F

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ATR

NM_001184.4:p.L987F

hg38:chr3:142550149 G>A

Associated Papers

Two novel variants in CEP152 caused Seckel syndrome 5 in a Chinese family.

Zhang L et al.

Frontiers in Genetics, 2022

36685824 (PubMed )

Supplement: DataSheet1.doc

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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."