Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.A1044ins2
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PTCH1

NM_000264.5:p.A1044ins2

Associated Papers

Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome.

Mochizuki AY et al.

American Journal of Medical Genetics. Part A, 2024

The transcriptional landscape of Shh medulloblastoma.

Skowron P et al.

Nature Communications, 2021

33741928 (PubMed )
Supplement: 41467_2021_21883_MOESM5_ESM.xlsx › _B__Functional_Mutations
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