Varaico: Literature-Extracted Genetic Variants

Gene:CFAP57
Variant:p.S591L
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CFAP57

NM_001378189.1:p.S591L

Associated Papers

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

Jurgens JA et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38585811 (PubMed )
Supplement: media-3.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."