Varaico: Literature-Extracted Genetic Variants

Gene:CHAT
Variant:p.V304I
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CHAT

NM_020549.5:p.V304I

Associated Papers

A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins.

Lin X et al.

Frontiers in Pediatrics, 2024

38832002 (PubMed )
Supplement: Table1.xlsx › filter_variants

DMD mutations in pediatric patients with phenotypes of Duchenne/Becker muscular dystrophy.

Ge L et al.

Open Medicine (warsaw, Poland), 2024

39588385 (PubMed )
Supplement: med-2024-0916-sm2.xlsx › Additional_File_2

Molecular Characterization of Astrocytoma Progression Towards Secondary Glioblastomas Utilizing Patient-Matched Tumor Pairs.

Seifert M et al.

Cancers, 2020

32604718 (PubMed )
Supplement: cancers-12-01696-s001.zip › Supporting_Tables_and_Figures › Table_S8_ExomeSeq_Predictions.xlsx › MuTect_SNV_Predictions
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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."