Varaico: Literature-Extracted Genetic Variants

Gene:ANO10
Variant:p.D45fs
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ANO10

NM_018075.5:p.D45fs

Associated Papers

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.

Lang GT et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026

41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_1.pdf

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2A.Summary_vars_CPGs_MMgenes

Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C.

Motamed-Gorji N et al.

Antioxidants (basel, Switzerland), 2024

38790666 (PubMed )
Supplement: antioxidants-13-00561-s001.zip › antioxidants-2844844-supplementary.pdf

ANO10 Function in Health and Disease.

Chrysanthou A et al.

Cerebellum (london, England), 2023

Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Valentine H et al.

Cancer Research Communications, 2022

36643868 (PubMed )
Supplement: crc-22-0245-s07.xlsx › Variants_All_Exonic.exclude_ncR

Autosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan.

Aida I et al.

Internal Medicine (tokyo, Japan), 2022

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.

Cheng HL et al.

Translational Neurodegeneration, 2021

Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations.

Joshi A et al.

Oncotarget, 2021

33796225 (PubMed )
Supplement: oncotarget-12-578-s005.xlsx › Variants

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.

Kang C et al.

Cerebellum (london, England), 2019

Whole-exome sequencing of duodenal neuroendocrine tumors in patients with neurofibromatosis type 1.

Noë M et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma.

Behjati S et al.

Nature Communications, 2017

28643781 (PubMed )
Supplement: ncomms15936-s3.xlsx › Table_S2

NGS-based molecular diagnosis of hereditary ataxia is cost-efficient: an illustrative family.

Stubbe C et al.

Qjm : Monthly Journal of the Association of Physicians, 2016

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia.

Keogh MJ et al.

Journal of Neurology, 2015

Anoctamin 10-Related Autosomal Recessive Cerebellar Ataxia: Comprehensive Clinical Phenotyping of an Irish Sibship.

Bogdanova-Mihaylova P et al.

Movement Disorders Clinical Practice, 0

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