Varaico: Literature-Extracted Genetic Variants

Gene:RSPH6A
Variant:p.S107C
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RSPH6A

NM_030785.4:p.S107C

Associated Papers

A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.

Mohamoud HS et al.

Scientific Reports, 2018

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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."