Varaico: Literature-Extracted Genetic Variants

Gene:AP5S1
Variant:p.R22Q
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AP5S1

NM_018347.3:p.R22Q

Associated Papers

Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study.

Cardinale CJ et al.

Bmc Musculoskeletal Disorders, 2016

27829420 (PubMed )
Supplement: 12891_2016_1320_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."