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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATF6

Variant:p.P118fs

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ATF6

NM_007348.4:p.P118fs

hg38:chr1:161784094 C>CN

Associated Papers

Whole exome sequencing of families with 1q21.1 microdeletion or microduplication.

Qiao Y et al.

American Journal of Medical Genetics. Part A, 2017

28475290 (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."