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Open access Jan 2026

Potentially Deleterious Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in the Human MCPH1 Gene: Systematic In Silico Predictions and Implications for Structure and Function

Background The microcephalin 1/BRITI1 (MCPH1) gene has been implicated in microcephaly (MCPH), primary ciliary dyskinesia (PCD) syndrome, enlarged cranial volume, and pancreatic and breast cancers. It functions as a tumor suppressor and shows reduced expression in various cancer types. Therefore, the identification of...

R. Kousar, Sadia Latif, Mohammed Turki Hussain Alharthi et al. · 0 citations
Review Open access 2026

Advances in bioinformatics tools for genomic variant analysis, protein structure prediction, and molecular simulations

Advances in bioinformatics resources and tools have greatly enhanced the capabilities of protein structure prediction, molecular dynamics simulations, pathway analysis, and genomic variant annotation. These tools are essential for figuring out drug targets, comprehending disease mechanisms, and assisting with customize...

M. Muzammal, Maria Shafiq, Nazia Farid Burki et al. · 0 citations

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