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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IBTK

Variant:p.P716A

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IBTK

NM_015525.4:p.P716A

hg38:chr6:82214285 G>C

Associated Papers

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.

Bilgüvar K et al.

Nature, 2010

20729831 (PubMed )

Supplement: NIHMS218517-supplement-1.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."