Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.L130F
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FRMD7

NM_194277.3:p.L130F

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

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.

Ansar M et al.

American Journal of Human Genetics, 2018

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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."