Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.S23S
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FRMD7

NM_194277.3:p.S23S

Associated Papers

Genetic Landscape and Clinical Characterization of FRMD7-Related Infantile Nystagmus Based on Large In-House Datasets and Literature Review.

Liu S et al.

Investigative Ophthalmology & Visual Science, 2026

41532703 (PubMed )
Supplement: iovs-67-1-30_s008.xlsx › Sheet1

Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach.

Jaramillo Oquendo C et al.

Genome Medicine, 2024

39252027 (PubMed )
Supplement: 13073_2024_1381_MOESM2_ESM.xlsx › Table_S1

Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Singh R et al.

Plos One, 2020

32492030 (PubMed )
Supplement: pone.0233058.s001.xlsx › RADS27
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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."