Varaico: Literature-Extracted Genetic Variants

Gene:EEFSEC
Variant:p.P223L
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EEFSEC

NM_021937.5:p.P223L

Associated Papers

Association of rs142548867 (EEFSEC) and periodontitis Grade C in a young Brazilian population.

Stolf CS et al.

Journal of Applied Oral Science : Revista Fob, 2023

Novel rare frameshift variation in aggressive periodontitis: Exomic and familial-screening analysis.

Taiete T et al.

Journal of Periodontology, 2020

A role for TENM1 mutations in congenital general anosmia.

Alkelai A et al.

Clinical Genetics, 2016

27040985 (PubMed )
Supplement: supplement_1.pdf

Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Maciąg A et al.

Bmc Genetics, 2015

25888430 (PubMed )
Supplement: 12863_2015_177_MOESM1_ESM.xls › Sheet1

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

Pippucci T et al.

Plos One, 2013

24358150 (PubMed )
Supplement: pone.0082154.s002.xls › 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."