Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.S128fs
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FRMD7

NM_194277.3:p.S128fs

Associated Papers

Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus.

Lee J et al.

Translational Vision Science & Technology, 2022

35762937 (PubMed )
Supplement: tvst-11-6-25_s001.pdf
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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."