Varaico: Literature-Extracted Genetic Variants

Gene:SMIM48
Variant:p.D3N
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SMIM48

NM_001162371.3:p.D3N

Associated Papers

Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families.

Simpson CL et al.

Bmc Medical Genetics, 2019

30704416 (PubMed )
Supplement: 12881_2019_752_MOESM4_ESM.xlsx › Sheet1

Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Maciąg A et al.

Bmc Genetics, 2015

25888430 (PubMed )
Supplement: 12863_2015_177_MOESM1_ESM.xls › Sheet1
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