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Research article

First published 2008-5

A Family with Atypical Cystic Fibrosis: Brother and Sister with Heterozygosity for Both G542X and R117H

M. Esther Farez-Vidal, M. Amelia Gómez-Llorente, Carolina Gómez-Llorente [...]

Pediatric and Developmental Pathology

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Research article

First published 2012-1-25

TOMM40 rs10524523 Polymorphism's Role in Late-Onset Alzheimer's Disease and in Longevity

Aleksandra Maruszak, Beata Pepłońska, Krzysztof Safranow [...]

Journal of Alzheimer’s Disease

Open access

Research article

First published 2012-8-22

Biochemical Studies of Poly-T Variants in the Alzheimer's Disease Associated TOMM40 Gene

Louise Hedskog, Jesper Brohede, Birgitta Wiehager [...]

Journal of Alzheimer’s Disease

Free access

Research article

First published 2016

Associations between TOMM40 Poly-T Repeat Variants and Dementia in Cases with Parkinsonism

Daniel Lindqvist, Inga Prokopenko, Elisabet Londos [...]

Journal of Parkinson’s Disease

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Research article

First published 2020-11-10

APOE ɛ 4- TOMM40 L Haplotype Increases the Risk of Mild Cognitive Impairment Conversion to Alzheimer’s Disease

Remy Cardoso, Carolina Lemos, Bárbara Oliveiros [...]

Journal of Alzheimer’s Disease

Free access

Research article

First published 2012

BAT-25 polymorphism in Chinese from Jiangsu province and its implication for locus microsatellite instability screening

Yan Ying Zheng, Ling Xie, Li Liu [...]

The International Journal of Biological Markers

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Research article

First published 2014-02

A Novel Tri-Allelic Insertion/Deletion Polymorphism in the Promoter of p21 Waf1/Cip1 and the Association with Gastric Cancer

Zhiqiang Chen, Ying Dong, Ningju Wang [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2009-3

Impact of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutation on the Occurrence of Chronic Pancreatitis in Japanese Patients

H Aoyagi, T Okada, K Hasatani [...]

Journal of International Medical Research

Open access

Research article

First published 2019-05

Mendelian Inconsistent Signatures from 1314 Ancestrally Diverse Family Trios Distinguish Biological Variation from Sequencing Error

Prachi Kothiyal, Wendy S.W. Wong, Dale L. Bodian [...]

Journal of Computational Biology

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