Varaico: Literature-Extracted Genetic Variants

Gene:KNL1
Variant:p.T2192S
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KNL1

NM_144508.5:p.T2192S

Associated Papers

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

Wang X et al.

Nature Genetics, 2017

28288113 (PubMed )
Supplement: NIHMS853757-supplement-3.pdf
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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."