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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPAMD8

Variant:p.T1386N

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CPAMD8

NM_015692.5:p.T1386N

hg38:chr19:16904320 G>T

Associated Papers

Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.

Al-Saei O et al.

Bmc Genomics, 2024

38755526 (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."