Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.L11P
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BTK

NM_000061.3:p.L11P

Associated Papers

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

35874699 (PubMed )
Supplement: Table_1.xlsx › Suppl_table_1

Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015).

Chen XF et al.

Medicine, 2016

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Molecular dynamic simulation to explore the molecular basis of Btk-PH domain interaction with Ins(1,3,4,5)P4.

Lu D et al.

Thescientificworldjournal, 2013

Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China.

Wang Y et al.

Journal of Clinical Immunology, 2009

[Gene diagnosis of X-linked agammaglobulinemia].

Wang XC et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005

Conservation and covariance in PH domain sequences: physicochemical profile and information theoretical analysis of XLA-causing mutations in the Btk PH domain.

Shen B et al.

Protein Engineering, Design & Selection : Peds, 2004

Structure of the PH domain from Bruton's tyrosine kinase in complex with inositol 1,3,4,5-tetrakisphosphate.

Baraldi E et al.

Structure (london, England : 1993), 1999

BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

Vihinen M et al.

Nucleic Acids Research, 1998

[XLA (X-linked agammaglobulinemia)].

Kato M et al.

Ryoikibetsu Shokogun Shirizu, 1998

Structure of the PH domain and Btk motif from Bruton's tyrosine kinase: molecular explanations for X-linked agammaglobulinaemia.

Hyvönen M et al.

The Embo Journal, 1997

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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."