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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TTC5

Variant:p.P200L

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TTC5

NM_138376.3:p.P200L

hg38:chr14:20298837 G>A

Associated Papers

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.

Rasheed A et al.

Journal of Medical Genetics, 2021

32439809 (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."