Varaico: Literature-Extracted Genetic Variants

Gene:BLTP1
Variant:p.P720T
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BLTP1

NM_001384125.1:p.P720T

Associated Papers

Hemizygous splicing variant in CNKSR2 results in X-linked intellectual developmental disorder.

Lou Y et al.

Molecular Genetics & Genomic Medicine, 2024

38337158 (PubMed )
Supplement: MGG3-12-e2389-s001.xlsx › Sheet1

Genomic Mutation Profile of Primary Gastrointestinal Diffuse Large B-Cell Lymphoma.

Li P et al.

Frontiers in Oncology, 2021

33747936 (PubMed )
Supplement: Data_Sheet_1.xlsx › Table_2
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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."