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Research article

First published 2018-1

GP6 Haplotype of Missense Variants is Associated with Sticky Platelet Syndrome Manifested by Fetal Loss

Mária Škereňová, Juraj Sokol, Kamil Biringer [...]

Clinical and Applied Thrombosis/Hemostasis

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Research article

First published 2018-06

Functional Evaluation of ZNF350 Missense Genetic Variants Associated with Breast Cancer Susceptibility

Nasha Zhang, Youhua Lu, Xijun Liu [...]

DNA and Cell Biology

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Brief report

First published 2013-7-9

Novel Missense Progranulin Gene Mutation Associated with the Semantic Variant of Primary Progressive Aphasia

Chiara Cerami, Alessandra Marcone, Daniela Galimberti [...]

Journal of Alzheimer’s Disease

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Research article

First published 2023-03

A Novel Heterozygous Missense Variant in Parathyroid Hormone 1 is Related to the Occurrence of Developmental Dysplasia of the Hip

Dan Yang, Zaiwei Zhou, Shiqi Wang [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2022

Screening of Pathogenic Missense Single Nucleotide Variants From LHPP Gene Associated With the Hepatocellular Carcinoma: An In silico Approach

Malik Siddique Mahmood, Maryam Afzal, Hina Batool [...]

Bioinformatics and Biology Insights

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Research article

First published 2021-08

Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene

Amal Souissi, Mariem Ben Said, Fakher Frikha [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2025-7

Association of rare APOE missense variants with Alzheimer's disease in the Japanese population

Akinori Miyashita, Ai Obinata, Norikazu Hara [...]

Journal of Alzheimer’s Disease

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Research article

First published 2025-7

A novel missense variant in the RELN gene in sheep with lissencephaly and cerebellar hypoplasia

Leah K. Manning, Emily Winkenwerder, Louise Baskind [...]

Veterinary Pathology

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Research article

First published 2023-11-07

GRN Missense Variants and Familial Alzheimer’s Disease: Two Case Reports

Assunta Ingannato, Valentina Bessi, Annalisa Chiari [...]

Journal of Alzheimer’s Disease

Open access

Case report

First published 2022-7

A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy

Aino Maaria Jaakkola, Petri J Järventausta, Reetta-Stiina Järvinen [...]

European Journal of Ophthalmology

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