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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBR1

Variant:p.N374Y

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TBR1

NM_006593.4:p.N374Y

hg38:chr2:161419042 A>T

Associated Papers

A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability.

Sapey-Triomphe LA et al.

Human Genomics, 2020

32948248 (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."