Varaico: Literature-Extracted Genetic Variants

Gene:RBP3
Variant:p.A263S
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RBP3

NM_002900.3:p.A263S

Associated Papers

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.

Lang GT et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026

41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_2.pdf

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

Gombosh M et al.

Clinical Genetics, 2023

Whole-exome sequencing analysis identifies novel variants associated with Kawasaki disease susceptibility.

Zhang X et al.

Pediatric Rheumatology Online Journal, 2023

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."