Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.V43E
Back to variants list

SFTPC

NM_001317778.2:p.V43E

Associated Papers

Molecular genetics of idiopathic pulmonary fibrosis.

Mustafin RN

Vavilovskii Zhurnal Genetiki I Selektsii, 2022

Genetics of idiopathic pulmonary fibrosis: from mechanistic pathways to personalised medicine.

Spagnolo P et al.

Journal of Medical Genetics, 2017

Genetic risk factors associated with respiratory distress syndrome.

Jo HS

Korean Journal of Pediatrics, 2014

Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred.

Thomas AQ et al.

American Journal of Respiratory and Critical Care Medicine, 2002

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."