Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.D578fs
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RSPH4A

NM_001010892.3:p.D578fs

Associated Papers

Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia.

Daniels ML et al.

Human Mutation, 2013

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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."