Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A8
Variant:p.I639V
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SLC26A8

NM_052961.4:p.I639V

Associated Papers

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

Expanding the phenotypic spectrum associated with CFAP43 mutations: a case report of familial male infertility with respiratory manifestations.

Awad F et al.

Frontiers in Reproductive Health, 2025

41341611 (PubMed )
Supplement: Datasheet1.xlsx › Patient_1

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T2

Genetic factors for lone atrial fibrillation.

Kato K et al.

International Journal of Molecular Medicine, 2007

Genetic factors for obesity.

Yamada Y et al.

International Journal of Molecular Medicine, 2006

Genetic risk for atherothrombotic cerebral infarction in individuals stratified by sex or conventional risk factors for atherosclerosis.

Yamaguchi S et al.

International Journal of Molecular Medicine, 2006

Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure.

Mäkelä S et al.

Molecular Human Reproduction, 2005

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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."