Varaico: Literature-Extracted Genetic Variants

Gene:RBP3
Variant:p.K33E
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RBP3

NM_002900.3:p.K33E

Associated Papers

De-novo "germline second hit" loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia.

Gombosh M et al.

Clinical Genetics, 2023

Genome Sequence of Peacock Reveals the Peculiar Case of a Glittering Bird.

Jaiswal SK et al.

Frontiers in Genetics, 2018

30283495 (PubMed )
Supplement: Table_4.XLSX › uniq_sub_3239

Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.

Huang L et al.

Scientific Reports, 2017

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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."