Varaico: Literature-Extracted Genetic Variants

Gene:SSC5D
Variant:p.R21S
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SSC5D

NM_001144950.2:p.R21S

Associated Papers

Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.

Duran D et al.

Human Genome Variation, 2016

28018608 (PubMed )
Supplement: hgv201642-s3.xls › Table_S3
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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."