Varaico: Literature-Extracted Genetic Variants

Gene:PAM16
Variant:p.R44Q
Back to variants list

PAM16

NM_016069.11:p.R44Q

Associated Papers

De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans.

Lee Y et al.

Genes, 2021

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Villa F et al.

Immunity & Ageing : I & A, 2014

25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_ESM.xls › Sheet1
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."