Varaico: Literature-Extracted Genetic Variants

Gene:FLNB
Variant:p.S1535N
Back to variants list

FLNB

NM_001457.4:p.S1535N

Associated Papers

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.

Bernkopf M et al.

Human Mutation, 2017

Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia.

Okumura A et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2013

Mutations responsible for Larsen syndrome cluster in the FLNB protein.

Zhang D et al.

Journal of Medical Genetics, 2006

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."