Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.R673L
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PTCH2

NM_003738.5:p.R673L

Associated Papers

Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels.

Toyama M et al.

Plos One, 2022

35536790 (PubMed )
Supplement: pone.0268321.s003.xlsx › Sheet1

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.

Patel RM et al.

Cold Spring Harbor Molecular Case Studies, 2017

Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.

Onodera S et al.

Plos One, 2017

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