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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPECC1L

Variant:p.L431P

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SPECC1L

NM_015330.6:p.L431P

hg38:chr22:24322272 T>C

Associated Papers

Disruption of SPECC1L translation initiation by intragenic deletion: novel pathogenic mechanism in Teebi-hypertelorism syndrome.

Babai A et al.

Npj Genomic Medicine, 2025

41120295 (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."