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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBX1

Variant:p.P404S

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TBX1

NM_001379200.1:p.P404S

hg38:chr22:19766562 C>T

Associated Papers

Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.

Donoghue SE et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018

29455191 (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."