Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.Y328C
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FRMD7

NM_194277.3:p.Y328C

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_s006.xlsx › S1

Integrated molecular characterization reveals potential therapeutic strategies for pulmonary sarcomatoid carcinoma.

Yang Z et al.

Nature Communications, 2020

32985499 (PubMed )
Supplement: 41467_2020_18702_MOESM5_ESM.xlsx › Sheet1

Abnormal retinal development associated with FRMD7 mutations.

Thomas MG et al.

Human Molecular Genetics, 2014

24688117 (PubMed )
Supplement: supp_ddu122_ddu122supp_table2.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."