Varaico: Literature-Extracted Genetic Variants

Gene:NTRK1
Variant:p.M239_K240Splc
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NTRK1

NM_002529.4:p.M239_K240Splc

Associated Papers

Atypical Presentation of Congenital Insensitivity to Pain With Anhidrosis Leading to Diagnostic Odyssey.

Higashimoto T et al.

Molecular Genetics & Genomic Medicine, 2024

39465509 (PubMed )
Supplement: MGG3-12-e70027-s002.docx

Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.

Wang S et al.

Journal of Cellular and Molecular Medicine, 2024

38887977 (PubMed )
Supplement: JCMM-28-e18497-s004.xlsx › Sheet1

A novel NTRK1 splice site variant causing congenital insensitivity to pain with anhidrosis in a Chinese family.

Sun L et al.

Frontiers in Genetics, 2024

Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.

Li S et al.

Molecular Genetics & Genomic Medicine, 2021

Transposon clusters as substrates for aberrant splice-site activation.

Alvarez MEV et al.

Rna Biology, 2021

32965162 (PubMed )
Supplement: KRNB_A_1805909_SM0818.zip › Supplementary_information › Supplementary_Table_S1.pdf
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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."