Varaico: Literature-Extracted Genetic Variants

Gene:FAM149B1
Variant:p.Q118_K119Fs
Back to variants list

FAM149B1

NM_173348.2:p.Q118_K119Fs

Associated Papers

POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.

Borsche M et al.

Cerebellum (london, England), 2024

37085601 (PubMed )
Supplement: 12311_2023_1557_MOESM1_ESM.xlsx › Table_S1

Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.

Siegert S et al.

Genes, 2021

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."