Varaico: Literature-Extracted Genetic Variants

Gene:SFTPB
Variant:p.G135S
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SFTPB

NM_000542.5:p.G135S

Associated Papers

Pulmonary fibrosis in non-mutation carriers of families with short telomere syndrome gene mutations.

van der Vis JJ et al.

Respirology (carlton, Vic.), 2021

Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation-A Case Report and Review of the Literature.

Kurath-Koller S et al.

Ajp Reports, 2015

Genetic risk factors associated with respiratory distress syndrome.

Jo HS

Korean Journal of Pediatrics, 2014

Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB.

Tredano M et al.

American Journal of Medical Genetics. Part A, 2003

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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."