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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PITHD1

Variant:p.T164R

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PITHD1

NM_020362.5:p.T164R

hg38:chr1:23786380 C>G

Associated Papers

A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9.

Antwi P et al.

Cold Spring Harbor Molecular Case Studies, 2018

29695406 (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."