Varaico: Literature-Extracted Genetic Variants

Gene:TMEM231
Variant:p.V222I
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TMEM231

NM_001077418.3:p.V222I

Associated Papers

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

Identification of novel TMEM231 gene splice variants and pathological findings in a fetus with Meckel Syndrome.

Zhang Q et al.

Frontiers in Genetics, 2023

37736303 (PubMed )
Supplement: Table1.xlsx › Sheet1

Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.

Al-Hamed MH et al.

Human Genetics, 2022

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

Roberson EC et al.

The Journal of Cell Biology, 2015

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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."