Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.T1372M
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PTCH1

NM_000264.5:p.T1372M

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS09_het

Partial Truncation of the C-Terminal Domain of PTCH1 in Cancer Enhances Autophagy and Metabolic Adaptability.

Caballero-Ruiz B et al.

Cancers, 2023

36672319 (PubMed )
Supplement: cancers-15-00369-s001.zip › cancers-2107013-supplementary.pdf
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