Varaico: Literature-Extracted Genetic Variants

Gene:GRB14
Variant:p.L225S
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GRB14

NM_004490.3:p.L225S

Associated Papers

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_1

RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas

Zhao L et al.

Genes, 2022

35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S2.The_information_of_annotated_gene_mutations2.xlsx › ___

Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish.

Lu S et al.

Theranostics, 2021

33456573 (PubMed )
Supplement: thnov11p2788s1.pdf

Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.

Suzuki K et al.

Nature Genetics, 2019

Exome-wide Association Study Identifies CLEC3B Missense Variant p.S106G as Being Associated With Extreme Longevity in East Asian Populations.

Tanisawa K et al.

The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2017

27154906 (PubMed )
Supplement: glw074_suppl_20160228_jgbs_2015_218r1_supplemantary_tables.xlsx › Table_S1
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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."