Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.A70T
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PTCH1

NM_000264.5:p.A70T

Associated Papers

RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants.

Bueno-Martínez E et al.

Cancers, 2021

34200360 (PubMed )
Supplement: cancers-13-02845-s001.zip › cancers-1205645-supplementary.pdf

Distinctive mechanisms underlie the loss of SMARCB1 protein expression in renal medullary carcinoma: morphologic and molecular analysis of 20 cases.

Jia L et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

30980040 (PubMed )
Supplement: NIHMS1523944-supplement-1.xlsx › Sheet1

Dissection of estrogen receptor alpha signaling pathways in osteoblasts using RNA-sequencing.

Roforth MM et al.

Plos One, 2014

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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."