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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GPR50

Variant:p.H552Y

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GPR50

NM_004224.3:p.H552Y

hg38:chrX:151181237 C>T

Associated Papers

Analysis of pathogenic variants in retinoblastoma reveals a potential gain of function mutation.

Peña-Balderas AM et al.

Genes & Cancer, 2025

39845333 (PubMed )

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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."