Varaico: Literature-Extracted Genetic Variants

Gene:SMIM1
Variant:p.S22fs
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SMIM1

NM_001288583.2:p.S22fs

Associated Papers

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Feliubadaló L et al.

Scientific Reports, 2017

28050010 (PubMed )
Supplement: srep37984-s2.xls › Exome_geMODERATE_variants

Homozygosity for a null allele of SMIM1 defines the Vel-negative blood group phenotype.

Storry JR et al.

Nature Genetics, 2013

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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."