Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.R22_E25delFs
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RSPH4A

NM_001010892.3:p.R22_E25delFs

Associated Papers

Novel mutations in RSPH4A and TTN genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome.

Feng M et al.

Genes & Diseases, 2023

37396529 (PubMed )
Supplement: mmc1.xlsx › Sheet1
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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."