Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.R113Q
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SMO

NM_005631.5:p.R113Q

Associated Papers

Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.

Subasri V et al.

Cancer Research Communications, 2023

37377903 (PubMed )
Supplement: crc-22-0402-s04.xlsx › A._Class3_SNVs_indels

Rare hypomorphic human variation in the heptahelical domain of SMO contributes to holoprosencephaly phenotypes.

Nagai-Tanima M et al.

Human Mutation, 2020

Compound heterozygous mutations in SMO associated with anterior segment dysgenesis and morning glory syndrome.

Zhang J et al.

Gene, 2019

Genetic landscape of meningioma.

Yuzawa S et al.

Brain Tumor Pathology, 2016

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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."