Varaico: Literature-Extracted Genetic Variants

Gene:TPR
Variant:p.K177_Y178Splc
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TPR

NM_003292.3:p.K177_Y178Splc

Associated Papers

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

Senderek J et al.

American Journal of Human Genetics, 2003

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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."