Varaico: Literature-Extracted Genetic Variants

Gene:C18orf32
Variant:p.F31fs
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C18orf32

NM_001035005.4:p.F31fs

Associated Papers

C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures.

Salian S et al.

Human Genetics, 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."