Varaico: Literature-Extracted Genetic Variants

Gene:NECTIN1
Variant:p.R134*
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NECTIN1

NM_002855.5:p.R134*

Associated Papers

Uncombable hair syndrome and beyond.

Alsabbagh MM

Acta Dermatovenerologica Alpina, Pannonica, Et Adriatica, 2022

Disruption of the nectin-afadin complex recapitulates features of the human cleft lip/palate syndrome CLPED1.

Lough KJ et al.

Development (cambridge, England), 2020

Tooth agenesis and orofacial clefting: genetic brothers in arms?

Phan M et al.

Human Genetics, 2016

27699475 (PubMed )
Supplement: 439_2016_1733_MOESM4_ESM.xlsx › Table_Candidate_Gene_Mutations

Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.

Yoshida K et al.

The Journal of Dermatology, 2015

[Association of an uncombable hair syndrome and Wilson's disease].

Gonin J et al.

Annales De Pediatrie, 1984

Meta-analysis and systematic review for the genetic basis of cleft lip and palate.

Alghonemy WY et al.

Journal of Oral Biology and Craniofacial Research, 0

39866383 (PubMed )
Supplement: mmc1.xlsx › Sheet1
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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."