Varaico: Literature-Extracted Genetic Variants

Gene:TBP
Variant:p.Q77_Q81delFs
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TBP

NM_003194.5:p.Q77_Q81delFs

Associated Papers

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table1.XLS › Sheet

FUS P525L mutation causing amyotrophic lateral sclerosis and movement disorders.

Zhou B et al.

Brain and Behavior, 2020

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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."