Varaico: Literature-Extracted Genetic Variants

Gene:LRRIQ4
Variant:p.Q398H
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LRRIQ4

NM_001080460.3:p.Q398H

Associated Papers

Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.

Yu HC et al.

Cold Spring Harbor Molecular Case Studies, 2016

27148590 (PubMed )
Supplement: supp_mcs.a000844_SuppTable1.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."