Varaico: Literature-Extracted Genetic Variants

Gene:TNNI2
Variant:p.R174W
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TNNI2

NM_003282.4:p.R174W

Associated Papers

Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism.

Seyama R et al.

Journal of Human Genetics, 2023

TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis.

Nishimori Y et al.

Neurology. Genetics, 2022

Troponin through the looking-glass: emerging roles beyond regulation of striated muscle contraction.

Johnston JR et al.

Oncotarget, 2018

29416706 (PubMed )
Supplement: oncotarget-09-1461-s001.pdf

Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation.

Čulić V et al.

Human Genome Variation, 2016

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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."