Varaico: Literature-Extracted Genetic Variants

Gene:POTEH
Variant:p.S12F
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POTEH

NM_001136213.1:p.S12F

Associated Papers

The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort.

Gogate A et al.

Npj Genomic Medicine, 2024

39632905 (PubMed )
Supplement: 41525_2024_444_MOESM2_ESM.xlsx › Supplementary_Data_5

Characterization of p190-Bcr-Abl chronic myeloid leukemia reveals specific signaling pathways and therapeutic targets.

Adnan-Awad S et al.

Leukemia, 2021

33168949 (PubMed )
Supplement: 41375_2020_1082_MOESM4_ESM.xlsx › S1

Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Xing Y et al.

Plos Neglected Tropical Diseases, 2020

33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families

Two classes of intrahepatic cholangiocarcinoma defined by relative abundance of mutations and copy number alterations.

Kim YH et al.

Oncotarget, 2016

27009864 (PubMed )
Supplement: oncotarget-07-23825-s001.pdf
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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."