Varaico: Literature-Extracted Genetic Variants

Gene:RAB3GAP2
Variant:p.Q789fs
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RAB3GAP2

NM_012414.4:p.Q789fs

Associated Papers

High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.

Kunisetty B et al.

Investigative Ophthalmology & Visual Science, 2024

38502138 (PubMed )
Supplement: iovs-65-3-25_s002.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."