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Articles (206)

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1-10 of 206 results for frameshift mutation

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Retricted access

Case report

First published 2022-4

A Novel IRF6 Frameshift Mutation in a Large Chinese Pedigree With Van der Woude syndrome

Qi Peng, Wenyan Qin, Siping Li [...]

The Cleft Palate Craniofacial Journal

Retricted access

Research article

First published 2019-2

Frameshift mutation of candidate tumor suppressor genes QK1 and TMEFF2 in gastric and colorectal cancers

Ha Yoon Mo, Yun Sol Jo, Nam Jin Yoo [...]

Cancer Biomarkers

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Announcement

First published 2007-3

Dominant Optic Atrophy in a Japanese Family with Opa1 Frameshift Mutation (V942fsX966)

T. Hayashi, T. Takeuchi, T. Gekka [...]

European Journal of Ophthalmology

Open access

Research article

First published 2025-8

Inherited prion disease caused by a novel frameshift mutation of PRNP resulting in protein truncation at codon 157

Leah Holm-Mercer, Tze How Mok, Danielle Sequeira [...]

Journal of Alzheimer’s Disease

Open access

Research article

First published 2021

In-Frame and Frameshift Mutations in Zebrafish Presenilin 2 Affect Different Cellular Functions in Young Adult Brains

Karissa Barthelson, Stephen Martin Pederson, Morgan Newman [...]

Journal of Alzheimer's Disease Reports

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Research article

First published 2008-12

A Novel Frameshift Mutation in FRMD7 Causing X-Linked Idiopathic Congenital Nystagmus

Xiang He, Feng Gu, Ze Wang [...]

Genetic Testing and Molecular Biomarkers

Open access

Case report

First published 2019

Identification of an HNF1A p.Gly292fs Frameshift Mutation Presenting as Diabetes During Pregnancy in a Maltese Family

Nikolai Paul Pace, Christopher Rizzo, Alexia Abela [...]

Clinical Medicine Insights: Case Reports

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Research article

First published 2018-03

Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa

Mu Yang, Shujin Li, Wenjing Liu [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2023-09

Two Novel Frameshift Mutations in the GLI3 Gene Underlie Non-Syndromic Polydactyly in Chinese Families

Xiaoyan Guo, Tengfei Shi, Mingrui Lin [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2010-11

Novel somatic frameshift Mutations of Genes Related to Cell Cycle and DNA Damage Response in Gastric and Colorectal Cancers with Microsatellite Instability

Yoo Ri Kim, Nak Gyun Chung, Mi Ran Kang [...]

Tumori Journal

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