Varaico: Literature-Extracted Genetic Variants

Gene:ENPP3
Variant:p.L29P
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ENPP3

NM_005021.5:p.L29P

Associated Papers

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL5

Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family.

Haskell GT et al.

The Journal of Heart Valve Disease, 2017

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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."