Varaico: Literature-Extracted Genetic Variants

Gene:CHRM5
Variant:p.Q184R
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CHRM5

NM_012125.4:p.Q184R

Associated Papers

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.

Lemberg K et al.

Kidney International Reports, 2025

41141495 (PubMed )
Supplement: mmc1.pdf

Recessive CHRM5 variant as a potential cause of neurogenic bladder.

Schneider S et al.

American Journal of Medical Genetics. Part A, 2023

[Genetic analysis of idiopathic renal hypouricemia: a case report and estimation of allelic frequency of the mutation].

Mitani N et al.

Rinsho Byori. the Japanese Journal of Clinical Pathology, 2006

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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."