Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.R597I
Back to variants list

ANO5

NM_213599.3:p.R597I

Associated Papers

Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review.

Zhou Z et al.

Molecular Genetics & Genomic Medicine, 2024

37649308 (PubMed )
Supplement: MGG3-12-e2277-s004.docx

Integration of metabolomics and transcriptomics provides insights into enhanced osteogenesis in Ano5Cys360Tyr knock-in mouse model.

Li H et al.

Frontiers in Endocrinology, 2023

Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran.

Yassaee VR et al.

Molecular Genetics & Genomic Medicine, 2022

Introduction of a Cys360Tyr Mutation in ANO5 Creates a Mouse Model for Gnathodiaphyseal Dysplasia.

Li H et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022

ANO5-associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype.

Sandal S et al.

Congenital Anomalies, 2021

Gnathodiaphyseal dysplasia with a novel R597I mutation of ANO5: Mandibular reconstruction strategies.

Marechal G et al.

Journal of Stomatology, Oral and Maxillofacial Surgery, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."