Varaico: Literature-Extracted Genetic Variants

Gene:KIFBP
Variant:p.L101L
Back to variants list

KIFBP

NM_015634.4:p.L101L

Associated Papers

KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.

Drévillon L et al.

Human Molecular Genetics, 2013

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Brooks AS et al.

American Journal of Human Genetics, 2005

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."