Varaico: Literature-Extracted Genetic Variants

Gene:NCALD
Variant:p.K130R
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NCALD

NM_032041.3:p.K130R

Associated Papers

Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.

Ruhno C et al.

Human Genetics, 2019

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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."