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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMCC1

Variant:p.S605S

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TMCC1

NM_001017395.5:p.S605S

hg38:chr3:129651628 G>A

Associated Papers

A novel homozygous nonsense mutation in CAST associated with PLACK syndrome.

Temel ŞG et al.

Cell and Tissue Research, 2019

31392520 (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."