Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.V205fs
Back to variants list

LAMP2

NM_002294.3:p.V205fs

Associated Papers

Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.

Asif M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Yang Q et al.

Journal of the American Heart Association, 2022

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."