Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.W394L
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FKRP

NM_024301.5:p.W394L

Associated Papers

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.

Deden C et al.

Prenatal Diagnosis, 2020

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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."