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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMARCAL1

Variant:p.D273_F279del7

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SMARCAL1

NM_014140.4:p.D273_F279del7

hg38:chr2:216416261 TGACACCAAGACGTGGAACTTC>T

Associated Papers

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.

Shamseldin HE et al.

Genome Biology, 2015

26036949 (PubMed )

Supplement: 13059_2015_681_MOESM2_ESM.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."