Varaico: Literature-Extracted Genetic Variants

Gene:PAFAH1B1
Variant:p.H277P
Back to variants list

PAFAH1B1

NM_000430.4:p.H277P

Associated Papers

Patient-specific mutation of Dync1h1 in mice causes brain and behavioral deficits.

Ramos RL et al.

Neurobiology of Disease, 2024

Structures of human dynein in complex with the lissencephaly 1 protein, LIS1.

Reimer JM et al.

Elife, 2023

Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy.

Zhang L et al.

Human Genomics, 2020

Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.

Friocourt G et al.

Acta Neuropathologica, 2011

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."