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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL18A1

Variant:p.A884_K885del1

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COL18A1

NM_001379500.1:p.A884_K885del1

hg38:chr21:45497629 CCAA>C

Associated Papers

Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability.

Rasool IG et al.

Genes & Genomics, 2021

33710595 (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."