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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RSPH4A

Variant:p.R485Q

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RSPH4A

NM_001010892.3:p.R485Q

hg38:chr6:116628161 G>A

Associated Papers

A novel homozygous RSPH4A variant in a family with primary ciliary dyskinesia and literature review.

Shen C et al.

Frontiers in Genetics, 2024

38818043 (PubMed )

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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."