Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.L664fs
Back to variants list

PTCH1

NM_000264.5:p.L664fs

Associated Papers

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.

Jin SC et al.

Nature Medicine, 2020

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.

Furey CG et al.

Neuron, 2018

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."