Varaico: Literature-Extracted Genetic Variants

Gene:TNNI2
Variant:p.F178C
Back to variants list

TNNI2

NM_003282.4:p.F178C

Associated Papers

Troponin I - a comprehensive review of its function, structure, evolution, and role in muscle diseases.

Han D et al.

Animal Cells and Systems, 2025

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

A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1.

Wang B et al.

American Journal of Medical Genetics. Part A, 2016

Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation.

Čulić V et al.

Human Genome Variation, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."