Varaico: Literature-Extracted Genetic Variants

Gene:ISL1
Variant:p.E54*
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ISL1

NM_002202.3:p.E54*

Associated Papers

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.

Hsieh A et al.

Genome Medicine, 2020

32349777 (PubMed )
Supplement: 13073_2020_738_MOESM1_ESM.xlsx › Table_S3_All_EM-mosaic_Mosaics
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