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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPB41L4A

Variant:p.Y163Y

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EPB41L4A

NM_022140.5:p.Y163Y

hg38:chr5:112264961 G>A

Associated Papers

Whole exome sequencing reveals rare variants linked to congenital pouch colon.

Mathur P et al.

Scientific Reports, 2018

29703930 (PubMed )

Supplement: 41598_2018_24967_MOESM8_ESM.xls › Table_6b

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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."