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Missense mutation

Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia

Xianli Zhang, Yang Liu, [ ... ], Shuguo Zheng

Disease-associated mitochondrial mutations and the evolution of primate mitogenomes

William Corrêa Tavares, Héctor N. Seuánez

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss

Amina Bakhchane, Majida Charif, [ ... ], Abdelhamid Barakat

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

Sneha P., Thirumal Kumar D., [ ... ], Hatem Zayed

Functional relevance for associations between osteoporosis and genetic variants

Kun Liu, Li-Jun Tan, [ ... ], Hong-Wen Deng

A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia

Kai Gao, Anel Tankovic, [ ... ], Yuwu Jiang

No Evidence for Pathogenic Role of UBQLN2 Mutations in Sporadic Amyotrophic Lateral Sclerosis in the Mainland Chinese Population

Xiao Huang, Shen Shen, Dongsheng Fan

A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis

Wufang Fan, Bei Wang, [ ... ], Lin Li

Surveillance of Helicobacter pylori Antibiotic Susceptibility in Indonesia: Different Resistance Types among Regions and with Novel Genetic Mutations

Muhammad Miftahussurur, Ari Fahrial Syam, [ ... ], Yoshio Yamaoka

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts

Bushra Irum, Shahid Y. Khan, [ ... ], S. Amer Riazuddin

Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases

Seiji Saito, Kazuki Ohno, Torayuki Okuyama, Hitoshi Sakuraba

Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome

Samia Abdi, Amel Bahloul, [ ... ], Christine Petit

Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease

Xiaoxia Pan, Yan Ouyang, [ ... ], Nan Chen

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