Varaico: Literature-Extracted Genetic Variants

Gene:TTI2
Variant:p.C468R
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TTI2

NM_001102401.4:p.C468R

Associated Papers

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.

Lin L et al.

Orphanet Journal of Rare Diseases, 2020

33176815 (PubMed )
Supplement: 13023_2020_1599_MOESM6_ESM.xlsx › Sheet4
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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."