Varaico: Literature-Extracted Genetic Variants

Gene:HBS1L
Variant:p.V612I
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HBS1L

NM_006620.4:p.V612I

Associated Papers

Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits.

Unknown Author

Nature Genetics, 2016

27399967 (PubMed )
Supplement: NIHMS793138-supplement-Suppl_tables.xlsx › S9a

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.

Oud MM et al.

Cilia, 2016

27069622 (PubMed )
Supplement: 13630_2016_29_MOESM1_ESM.xls › Total_variants
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