Varaico: Literature-Extracted Genetic Variants

Gene:IVNS1ABP
Variant:p.I70T
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IVNS1ABP

NM_006469.5:p.I70T

Associated Papers

Precocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function LHCGR Variant.

Flippo C et al.

Journal of the Endocrine Society, 2022

Accelerated expansion of pathogenic mitochondrial DNA heteroplasmies in Huntington's disease.

Wang Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

34301881 (PubMed )
Supplement: pnas.2014610118.sd01.xlsx › pathogenic_mtDNA_heteroplasmies

[Leber's hereditary optic neuropathy and limbs abnormity claudication may be associated with the mitochondrial ND1 T3866C mutation].

Liu Y et al.

Yi Chuan = Hereditas, 2010

[Analysis of mitochondrial gene mutations in pedigrees of Leber's hereditary optic neuropathy].

Lin L et al.

Yi Chuan = Hereditas, 2003

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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."