Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM4
Variant:p.E1079A
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SHROOM4

NM_020717.5:p.E1079A

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

SHROOM4 Variants Are Associated With X-Linked Epilepsy With Features of Generalized Seizures or Generalized Discharges.

Bian WJ et al.

Frontiers in Molecular Neuroscience, 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."