<p>In <b>bold</b> are BRCA1 mutations that fall within an experimentally identified but biologically uncharacterized phosphorylation site. <sup>a</sup>The position and change at the amino acids specified by the missense variant is as reported in the BIC database. <sup>b</sup>The nucleotide change conforms to the HGVS nomenclature. <sup>c</sup>SNP IDs correspond to the dbSNP database <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0062468#pone.0062468-Sherry1" target="_blank">[73]</a> SNP identifiers. <sup>d</sup>Frequency represents the number of times reported in the BIC database. <sup>e</sup>The ten-residue long biologically uncharacterized kinase recognition motifs are shown. The biologically uncharacterized Serine ...
Single nucleotide polymorphisms (SNPs) are often associated with conferring risk for disease, and ar...
Background Inactivating germline mutations in the tumour suppressor gene BRCA1 are associated with a...
Single nucleotide variants are the most frequent type of sequence changes detected in the genome and...
<p>In <b>bold</b> are BRCA1 mutations that directly mutate an experimentally identified phosphorylat...
Mutations in BRCA1 and BRCA2 are responsible for a large proportion of breast-ovarian cancer familie...
<div><p>Mutations in <i>BRCA1</i> and <i>BRCA2</i> are responsible for a large proportion of breast-...
Mutations in BRCA1 and BRCA2 are responsible for a large proportion of breast-ovarian cancer familie...
Motivation: Coding-region mutations in human genes are responsible for a diverse spectrum of disease...
Pathogenic mutations in BRCA1 are associated with an increased risk of hereditary breast, ovarian, a...
Unambiguous classification of BRCA1 and BRCA2 variants of uncertain significance (VUS) is a challeng...
Unambiguous classification of BRCA1 and BRCA2 variants of uncertain significance (VUS) is a challeng...
Motivation: Coding-region mutations in human genes are responsible for a diverse spectrum of disease...
AbstractSingle-nucleotide polymorphisms (SNPs) play a major role in the understanding of the genetic...
The identification of variants of unknown clinical significance (VUS) in the BRCA1 gene complicates ...
<div><p>Two surface variants found to be deleterious to BRCA1 activity in our companion paper (R1753...
Single nucleotide polymorphisms (SNPs) are often associated with conferring risk for disease, and ar...
Background Inactivating germline mutations in the tumour suppressor gene BRCA1 are associated with a...
Single nucleotide variants are the most frequent type of sequence changes detected in the genome and...
<p>In <b>bold</b> are BRCA1 mutations that directly mutate an experimentally identified phosphorylat...
Mutations in BRCA1 and BRCA2 are responsible for a large proportion of breast-ovarian cancer familie...
<div><p>Mutations in <i>BRCA1</i> and <i>BRCA2</i> are responsible for a large proportion of breast-...
Mutations in BRCA1 and BRCA2 are responsible for a large proportion of breast-ovarian cancer familie...
Motivation: Coding-region mutations in human genes are responsible for a diverse spectrum of disease...
Pathogenic mutations in BRCA1 are associated with an increased risk of hereditary breast, ovarian, a...
Unambiguous classification of BRCA1 and BRCA2 variants of uncertain significance (VUS) is a challeng...
Unambiguous classification of BRCA1 and BRCA2 variants of uncertain significance (VUS) is a challeng...
Motivation: Coding-region mutations in human genes are responsible for a diverse spectrum of disease...
AbstractSingle-nucleotide polymorphisms (SNPs) play a major role in the understanding of the genetic...
The identification of variants of unknown clinical significance (VUS) in the BRCA1 gene complicates ...
<div><p>Two surface variants found to be deleterious to BRCA1 activity in our companion paper (R1753...
Single nucleotide polymorphisms (SNPs) are often associated with conferring risk for disease, and ar...
Background Inactivating germline mutations in the tumour suppressor gene BRCA1 are associated with a...
Single nucleotide variants are the most frequent type of sequence changes detected in the genome and...