Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.M449_L450Splc
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PTCH1

NM_000264.5:p.M449_L450Splc

Associated Papers

A practical framework for predicting splicing single nucleotide variants in exome sequencing.

Utsuno Y et al.

Nar Genomics and Bioinformatics, 2025

41424762 (PubMed )
Supplement: lqaf180_supplemental_files.zip › Supplementary_Tables_final.xlsx › Table_S7

Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Tang R et al.

Advances in Bioinformatics, 2016

27313609 (PubMed )
Supplement: 5614058.f1.pdf

PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.

Guo YY et al.

Plos One, 2013

24204797 (PubMed )
Supplement: pone.0077305.s001.docx

PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.

Sun LS et al.

Journal of Dental Research, 2008

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