Varaico: Literature-Extracted Genetic Variants

Gene:RAB39B
Variant:p.K124insFs
Back to variants list

RAB39B

NM_171998.4:p.K124insFs

Associated Papers

A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report.

Santoro C et al.

Bmc Neurology, 2020

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."