Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis.

about

The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis.Evaluating the association of bone morphogenetic protein 4-V152A and SIX homeobox 6-H141N polymorphisms with congenital cataract and microphthalmia in Western Indian population.

P2860

Q53958309-14B82C1D-A96E-4E0D-AEF7-06C0FF421EC6 Q54091212-7965D8F9-41FF-48B7-B628-0198B87813D7

P2860

Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis.

Item

http://www.wikidata.org/entity/Q38817939

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

@zh-cn

name

Mutation analysis by direct an ...... l and sporadic tooth agenesis.

@en

type

Item

label

Mutation analysis by direct an ...... l and sporadic tooth agenesis.

@en

prefLabel

Mutation analysis by direct an ...... l and sporadic tooth agenesis.

@en

P1476

Mutation analysis by direct an ...... al and sporadic tooth agenesis

@en

P2093

Alessandra Majorana

http://www.w3.org/2001/XMLSchema#string

Alessandro Salvi

http://www.w3.org/2001/XMLSchema#string

Elena Bardellini

http://www.w3.org/2001/XMLSchema#string

Francesca Amadori

http://www.w3.org/2001/XMLSchema#string

Giuseppe Borsani

http://www.w3.org/2001/XMLSchema#string

Lia Ferrari

http://www.w3.org/2001/XMLSchema#string

P2860

Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer

A method and server for predicting damaging missense mutations

ClinVar: public archive of interpretations of clinically relevant variants

Guidelines for investigating causality of sequence variants in human disease

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Fast and accurate long-read alignment with Burrows-Wheeler transform

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

Genic intolerance to functional variation and the interpretation of personal genomes

Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations.

Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis. A genetic study and literature review

P304

1338-1348

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.3892/IJMM.2016.2742

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Edoardo Giacopuzzi

Giuseppina De Petro

P577

2016-09-19T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

27665865

http://www.w3.org/2001/XMLSchema#string

P932

5065298

http://www.w3.org/2001/XMLSchema#string

Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis.

about

P2860

P2860

Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932