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Determining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational approach

P., Sneha; D., Thirumal Kumar; C., George Priya Doss; R., Siva; Zayed, Hatem ( Plos One , 2017 , Article)

Maturity-onset diabetes of the young type 3 (MODY3) is a non-ketotic form of diabetes associated with poor insulin secretion. Over the past years, several studies have reported the association of missense mutations in the ...

Structural Analysis of G1691S Variant in the Human Filamin B Gene Responsible for Larsen Syndrome: A Comparative Computational Approach

P., Sneha; D., Kumar Thirumal; Tanwar, Himani; R., Siva; C., George Priya Doss; ... more authors ... less authors ( Wiley Periodicals, Inc , 2017 , Article)

Larsen syndrome (LRS) is a rare genetic disease associated with variable manifestations including skeletal malformations, dislocations of the large joints, and notable changes in facial and limb features. Genetic variants ...