Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRB
Variant:p.N666D
Back to variants list

PDGFRB

NM_002609.4:p.N666D

Associated Papers

A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.

Guimier A et al.

American Journal of Medical Genetics. Part A, 2019

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."