Varaico: Literature-Extracted Genetic Variants

Gene:ASCC3
Variant:p.K532R
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ASCC3

NM_006828.4:p.K532R

Associated Papers

The molecular landscape of AL amyloidosis.

Zvida-Bloch T et al.

British Journal of Haematology, 2025

Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.

Gao J et al.

International Journal of Molecular Sciences, 2020

32344918 (PubMed )
Supplement: ijms-21-03040-s001.zip › Supplementary_Data › Supplementary_Data_2.xlsx › S_Data_2

Genomic profiling in amyloid light-chain amyloidosis reveals mutation profiles associated with overall survival.

Huang XF et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2020

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Chen X et al.

Bmc Medical Genetics, 2019

31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil

Genomic analysis identifies masqueraders of full-term cerebral palsy.

Takezawa Y et al.

Annals of Clinical and Translational Neurology, 2018

29761117 (PubMed )
Supplement: ACN3-5-538-s001.xlsx › Sheet1
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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."