Varaico: Literature-Extracted Genetic Variants

Gene:KCNMA1
Variant:p.R1128Q
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KCNMA1

NM_002247.4:p.R1128Q

Associated Papers

Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome.

Geraghty RM et al.

Journal of Rare Diseases (berlin, Germany), 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."