Varaico: Literature-Extracted Genetic Variants

Gene:ACAN
Variant:p.P541P
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ACAN

NM_001369268.1:p.P541P

Associated Papers

Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities.

Narumi S et al.

Nature Genetics, 2024

38714868 (PubMed )
Supplement: 41588_2024_1735_MOESM3_ESM.xlsx › Supplementary_Table_1

Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.

Wu J et al.

Frontiers in Genetics, 2022

35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1

The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Lim CH et al.

Oncotarget, 2016

27175599 (PubMed )
Supplement: oncotarget-07-39758-s006.xlsx › TableS5
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