Varaico: Literature-Extracted Genetic Variants

Gene:TGM6
Variant:p.P564S
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TGM6

NM_198994.3:p.P564S

Associated Papers

Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients.

Hadjivassiliou M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2017

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 343.163
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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."