Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB12
Variant:p.L13F
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EFCAB12

NM_207307.3:p.L13F

Associated Papers

Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder.

Khan H et al.

Scientific Reports, 2024

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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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."