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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LRRC51

Variant:p.R146Splc

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LRRC51

NM_145309.6:p.R146Splc

hg38:chr11:72095377 A>C

Associated Papers

A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability.

Yousaf H et al.

Clinical Genetics, 2023

37317634 (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."