Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP1-3
Variant:p.C24S
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KRTAP1-3

NM_030966.2:p.C24S

Associated Papers

Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.

Magallón-Lorenz M et al.

Iscience, 2023

36818284 (PubMed )
Supplement: mmc2.xlsx › HS-PSS

Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.

Ling C et al.

Bmc Medical Genetics, 2019

30642278 (PubMed )
Supplement: 12881_2018_725_MOESM2_ESM.xlsx › Sheet1

Identification of 11 potentially relevant gene mutations involved in growth retardation, intellectual disability, joint contracture, and hepatopathy.

Diao H et al.

Medicine, 2018

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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."