Associated Papers
Whole exome sequencing identified three novel mutations of RTEL1 in Chinese patients with idiopathic pulmonary fibrosis.
Liu L et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025
40424856 (PubMed )
Supplement: 1-s2.0-S0925443925002728-mmc1.docx
Human D-Lactate Dehydrogenase Deficiency: A Case Report in a Young Boy.
Sloth TB et al.
Jimd Reports, 2025
Early-onset gout and rare deficient variants of the lactate dehydrogenase D gene.
Bardin T et al.
Rheumatology (oxford, England), 2023
Select a paper to view details