ACTN1 variants associated with thrombocytopenia. - Wikidata - awgldk - TriplyDB

ACTN1 variants associated with thrombocytopenia.

ACTN1 variants associated with thrombocytopenia.

http://www.wikidata.org/entity/Q48150316

about

Platelet protein biomarker panel for ovarian cancer diagnosis.

P2860

Q48222655-287B4F31-CBDC-427A-974D-0C0ACDF2AF40

P2860

ACTN1 variants associated with thrombocytopenia.

http://www.wikidata.org/entity/Q48150316

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh

2017年學術文章

@zh-hant

name

ACTN1 variants associated with thrombocytopenia.

@en

ACTN1 variants associated with thrombocytopenia.

@nl

type

label

ACTN1 variants associated with thrombocytopenia.

@en

ACTN1 variants associated with thrombocytopenia.

@nl

prefLabel

ACTN1 variants associated with thrombocytopenia.

@en

ACTN1 variants associated with thrombocytopenia.

@nl

P1433

Q48150316-33E6A6E3-23B0-4681-AF43-AADE23429814

P1476

Q48150316-73122A40-4D1C-48C7-8C4B-568F87B76B98

P2093

Q48150316-7683995D-ECB2-4407-B3C2-EAE25DBA3D4E

P2860

Q48150316-06CB4543-41C6-4133-997A-87817EC879A6

Q48150316-12204764-90A8-487D-8178-C140037017C4

Q48150316-13A3C165-242E-4720-BE85-05810F05CD75

Q48150316-2BE18B6B-A296-44C3-A70C-CB5DB49F88C5

Q48150316-55DD706B-0128-4199-ADFE-71592D6C1394

Q48150316-6F8F4219-A74D-4452-8FDB-33DF7D9C21DE

Q48150316-8E55CA77-7F47-45F8-964D-46F6FF9DF2A3

Q48150316-95971184-6F57-4391-B801-BEAAAEE4A0B0

Q48150316-ABF5E78C-B1B1-47C7-A2F7-AAE6AC61A0F4

Q48150316-BE210063-1B0E-4571-8B8A-DCA4D701EAB9

P304

Q48150316-C3485D09-F351-4E5E-A2D1-DF9F76687E7F

P31

Q48150316-E4768F0D-025D-4559-8936-28652B43EE30

P356

Q48150316-16F5712F-522A-4FC5-803A-E694C8AD97EB

P433

Q48150316-9DB7D047-A95E-4332-9D13-8E7D3ABDB919

P478

Q48150316-87A26F22-A8FB-41CA-B42A-0EC827525A8E

P50

Q48150316-272C439D-1521-4A1E-876D-A1AC10BD701B

Q48150316-E374ED64-7B55-4396-BCE5-53B544AC7B4C

P577

Q48150316-C95CAACB-E428-4A5A-A04F-5F0AA082CE9B

P698

Q48150316-68367072-2434-424E-9CE3-C8D0B857B750

P921

Q48150316-57433D65-4CCA-486F-B050-22F2F6434AC9

P356

09537104.2017.1356455

P1433

P1476

ACTN1 variants associated with thrombocytopenia.

@en

P2093

Andrew D Mumford

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

P2860

ACTN1 mutations cause congenital macrothrombocytopenia

A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis

Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

Cytoskeletal regulation of platelet formation: Coordination of F-actin and microtubules.

ACTN1 rod domain mutation associated with congenital macrothrombocytopenia.

Congenital macrothrombocytopenia-linked mutations in the actin-binding domain of α-actinin-1 enhance F-actin association.

P304

625-627

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

P31

scholarly article

P356

10.1080/09537104.2017.1356455

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

P433

6

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

P478

28

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

P50

Sarah K. Westbury

Deborah Shoemark

P577

2017-08-31T00:00:00Z

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

P698

28856919

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

P921

thrombocytopenia