Varaico: Literature-Extracted Genetic Variants

Gene:RTEL1
Variant:p.K1176N
Back to variants list

RTEL1

NM_001283009.2:p.K1176N

Associated Papers

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.

Stuart BD et al.

Nature Genetics, 2015

25848748 (PubMed )
Supplement: NIHMS673360-supplement-2.pdf
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."