Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0319
Variant:p.N413_A414insFs
Back to variants list

KIAA0319

NM_014809.4:p.N413_A414insFs

Associated Papers

Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.

Suzuki OT et al.

American Journal of Human Genetics, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."