Varaico: Literature-Extracted Genetic Variants

Gene:BICD2
Variant:p.E515K
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BICD2

NM_001003800.2:p.E515K

Associated Papers

An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?

Chin HL et al.

American Journal of Medical Genetics. Part A, 2022

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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."