Varaico: Literature-Extracted Genetic Variants

Gene:FBN2
Variant:p.N1259K
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FBN2

NM_001999.4:p.N1259K

Associated Papers

Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.

Sampson MG et al.

American Journal of Medical Genetics. Part A, 2010

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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."