Varaico: Literature-Extracted Genetic Variants

Gene:C12orf54
Variant:p.L117L
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C12orf54

NM_152319.4:p.L117L

Associated Papers

A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.

Zhu Y et al.

European Journal of Human Genetics : Ejhg, 2024

38627542 (PubMed )
Supplement: 41431_2024_1573_MOESM3_ESM.xlsx › Sheet1

Frequent mutation of hypoxia-related genes in persistent pulmonary hypertension of the newborn.

Wang M et al.

Respiratory Research, 2020

32054482 (PubMed )
Supplement: 12931_2020_1314_MOESM1_ESM.xlsx › S6

The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Lim CH et al.

Oncotarget, 2016

27175599 (PubMed )
Supplement: oncotarget-07-39758-s006.xlsx › TableS5
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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."