Varaico: Literature-Extracted Genetic Variants

Gene:TMTC4
Variant:p.E183K
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TMTC4

NM_032813.5:p.E183K

Associated Papers

TMTC4 is a hair cell-specific human deafness gene.

Li J et al.

Jci Insight, 2023

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.

Kim SY et al.

Scientific Reports, 2022

35864128 (PubMed )
Supplement: 41598_2022_16661_MOESM1_ESM.xlsx › variant_list
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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."