Varaico: Literature-Extracted Genetic Variants

Gene:TMEM231
Variant:p.P125A
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TMEM231

NM_001077418.3:p.P125A

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

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.

Li C et al.

Plos Biology, 2016

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.

Braun DA et al.

Kidney International, 2016

26489029 (PubMed )
Supplement: NIHMS723233-supplement-01.pdf

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."