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Articles (2471)

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1-10 of 2471 results for functional variants

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Select article: Using Disease-Associated Coding Sequence Variation to Investigate Functional Compensation by Human Paralogous Proteins

Open access

Research article

First published 2015

Using Disease-Associated Coding Sequence Variation to Investigate Functional Compensation by Human Paralogous Proteins

Sayaka Miura, Stephanie Tate, Sudhir Kumar

Evolutionary Bioinformatics

Select article: Association of genetic variants of mannan-binding (MBL) lectin-2 gene,MBL levels and function in ulcerative colitis and Crohn’s disease

Free access

Research article

First published 2011-12

Association of genetic variants of mannan-binding (MBL) lectin-2 gene,MBL levels and function in ulcerative colitis and Crohn’s disease

G Sivaram, Santosh K Tiwari, Avinash Bardia [...]

Innate Immunity

Select article: Alpha-fetoprotein Structure and Function: Relevance to Isoforms,Epitopes,and Conformational Variants

Retricted access

Review article

First published 2001-1

Alpha-fetoprotein Structure and Function: Relevance to Isoforms,Epitopes,and Conformational Variants

Gerald J. Mizejewski

Experimental Biology and Medicine

Select article: Differential Hemispheric Predilection of Microstructural White Matter and Functional Connectivity Abnormalities between Respectively Semantic and Behavioral Variant Frontotemporal Dementia

Retricted access

Research article

First published 2017-1-24

Differential Hemispheric Predilection of Microstructural White Matter and Functional Connectivity Abnormalities between Respectively Semantic and Behavioral Variant Frontotemporal Dementia

Rozanna Meijboom, Rebecca M.E. Steketee, Leontine S. Ham [...]

Journal of Alzheimer’s Disease

Select article: No Pain,No Gain of Function: Epilepsy-Associated Variants in SCN2A Defy Classification

Open access

Article commentary

First published 2024-4

No Pain,No Gain of Function: Epilepsy-Associated Variants in SCN2A Defy Classification

Jérôme Clatot, Ethan M. Goldberg

Epilepsy Currents

Select article: Expanding the spectrum of TNNC2 variants in neonatal hypotonia - a family report of a homozygous loss-of-function variant

Open access

Case report

First published 2025-11

Expanding the spectrum of TNNC2 variants in neonatal hypotonia - a family report of a homozygous loss-of-function variant

Anthony Maino, Marie Chevallier, Diane Giovannini [...]

Journal of Neuromuscular Diseases

Select article: Functional Effects of WNT10A Rare Variants Associated with Tooth Agenesis

Retricted access

Research article

First published 2021-3

Functional Effects of WNT10A Rare Variants Associated with Tooth Agenesis

Y. Zeng, E. Baugh, S. Akyalcin [...]

Journal of Dental Research

Select article: Functional analysis of 6 variations in FOXL2

Open access

Research article

First published 2025

Functional analysis of 6 variations in FOXL2

Yuan Wang, Qian Wu, Yunyu Zhou [...]

Sage Open Medicine

Select article: Single Subject Classification of Alzheimer’s Disease and Behavioral Variant Frontotemporal Dementia Using Anatomical,Diffusion Tensor,and Resting-State Functional Magnetic Resonance Imaging

Retricted access

Research article

First published 2018-3-27

Single Subject Classification of Alzheimer’s Disease and Behavioral Variant Frontotemporal Dementia Using Anatomical,Diffusion Tensor,and Resting-State Functional Magnetic Resonance Imaging

Mark J.R.J. Bouts, Christiane Möller, Anne Hafkemeijer [...]

Journal of Alzheimer’s Disease

Select article: Functional rare variants influence the clinical response to anti-TNF therapy in Crohn’s disease

Open access

Research article

First published 2019

Functional rare variants influence the clinical response to anti-TNF therapy in Crohn’s disease

María Chaparro, Adrià Aterido, Iván Guerra [...]

Therapeutic Advances in Gastroenterology

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