Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.P115L
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PRH1

NM_001393989.1:p.P115L

Associated Papers

Clinical characteristics of SFTPC gene mutations in children: a single-center experience.

Yang T et al.

Italian Journal of Pediatrics, 2025

40890883 (PubMed )
Supplement: 13052_2025_2101_MOESM3_ESM.doc

Structural and Functional Implication of Natural Variants of Gαs.

Jeong Y et al.

International Journal of Molecular Sciences, 2023

Interstitial lung disease in children -- genetic background and associated phenotypes.

Hartl D et al.

Respiratory Research, 2005

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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."