Varaico: Literature-Extracted Genetic Variants

Gene:LRRC56
Variant:p.R12Q
Back to variants list

LRRC56

NM_198075.4:p.R12Q

Associated Papers

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table2.XLSX › Sheet1

Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome.

Deng S et al.

Bioscience Reports, 2020

32490514 (PubMed )
Supplement: BSR-2019-2510_supp.xlsx › Sheet1

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."