Enhancing Gene Mutation Prediction With Sparse Regularized Autoencoders in Lung Cancer Radiomics Analysis Abstract: Non-small cell lung cancer (NSCLC) remains the major contributor to global deaths ...

Lung cancer can be hereditary, with mutations in the EGFR and KRAS genes potentially playing a role. Smoking, however, is by far the biggest risk factor.

A membrane transport protein called SLC13A5 has previously been linked to a severe form of epileptic encephalopathy.

CGM can accurately predict protein mutation-disease associations, and to further elucidate the pathogenicity of protein mutations, we also verified that protein mutations lead to protein structural ...

Introduction: The pathogenic variant c.536G>A (p. R179H) of smooth muscle alpha-actin 2 (ACTA2) causes multisystemic smooth muscle dysfunction syndrome (MSMDS), a severe disorder marked by ...

Allelic mutations of the RUNX1 gene, including deletions, missense mutations, splicing alterations, frameshift mutations, and nonsense mutations, can lead to a rare autosomal recessive genetic ...

A second patient has died following treatment with Sarepta Therapeutics’ Elevidys, raising more doubts about the Duchenne muscular dystrophy (DMD) gene therapy’s safety profile. | A second ...