Frameshift mutation

ZMYND10 - Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia

Małgorzata Kurkowiak, Ewa Ziętkiewicz, [ ... ], Michał Witt

FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients

Avani Solanki, Purvi Mohanty, [ ... ], Babu Rao Vundinti

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

Nicole Weisschuh, Anja K. Mayer, [ ... ], Bernd Wissinger

A20 Mutation Is Not a Prognostic Marker for Activated B-Cell-Like Diffuse Large B-Cell Lymphoma

Hong Cen, Xiaohong Tan, Baoping Guo

Prevalence of Titin Truncating Variants in General Population

Oyediran Akinrinade, Juha W. Koskenvuo, Tero-Pekka Alastalo

Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center

Isabella Giovannoni, Francesco Callea, [ ... ], Paola Francalanci

A Low Frequency of Losses in 11q Chromosome Is Associated with Better Outcome and Lower Rate of Genomic Mutations in Patients with Chronic Lymphocytic Leukemia

José Ángel Hernández, María Hernández-Sánchez, [ ... ], Grupo Cooperativo Español de Citogenética Hematológica (GCECGH) and Grupo Español de Leucemia Linfática Crónica (GELLC)

Alagille Syndrome Mimicking Biliary Atresia in Early Infancy

Tomáš Dědič, Milan Jirsa, [ ... ], Radana Kotalová

Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome

Toshiya Okumura, Kengo Furuichi, [ ... ], Takashi Wada

A Naturally Occurring rev1-vpu Fusion Gene Does Not Confer a Fitness Advantage to HIV-1

Simon M. Langer, Kristina Hopfensperger, [ ... ], Daniel Sauter

Simultaneous Detection of Both Single Nucleotide Variations and Copy Number Alterations by Next-Generation Sequencing in Gorlin Syndrome

Kei-ichi Morita, Takuya Naruto, [ ... ], Hiroyuki Harada

Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association

Slađana Andrejević, Peter Korošec, [ ... ], Matija Rijavec

Calreticulin Mutations in Myeloproliferative Neoplasms: Comparison of Three Diagnostic Methods

Ji-Hye Park, Margaux Sevin, [ ... ], François Girodon

Frameshift mutation

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