Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM4
Variant:p.E314K
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SHROOM4

NM_020717.5:p.E314K

Associated Papers

X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.

Kolvenbach CM et al.

Journal of Medical Genetics, 2023

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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."