(Q59697617)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24906948%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

title

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24906948%20AND%20SRC:MED&resulttype=core&format=json

multiple congenital anomalies-hypotonia-seizures syndrome 3

20 March 2020

main subject

0 references

1 reference

4

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20 March 2020

Yoshinori Tsurusaki

5

1 reference

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20 March 2020

Masaya Kubota

7

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20 March 2020

Hirotomo Saitsu

9

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20 March 2020

author name string

Mitsuko Nakashima

1

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20 March 2020

Hirofumi Kashii

2

1 reference

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20 March 2020

Yoshiko Murakami

3

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20 March 2020

Noriko Miyake

6

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20 March 2020

Taroh Kinoshita

8

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20 March 2020

Naomichi Matsumoto

10

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20 March 2020

publication date

8 June 2014

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20 March 2020

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20 March 2020

volume

15

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20 March 2020

issue

3

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20 March 2020

page(s)

193-200

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https://scigraph.springernature.com/pub.10.1007/s10048-014-0408-y

20 March 2020

exact match

0 references

cites work

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

1 reference

12 December 2020

Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress

1 reference

12 December 2020

An integrated map of genetic variation from 1,092 human genomes

1 reference

12 December 2020

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome

1 reference

12 December 2020

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome

1 reference

12 December 2020

The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria

1 reference

12 December 2020

Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome

1 reference

12 December 2020

MutationTaster evaluates disease-causing potential of sequence alterations

1 reference

12 December 2020

A method and server for predicting damaging missense mutations

1 reference

12 December 2020

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

12 December 2020

PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8

1 reference

12 December 2020

Mammalian PIG-X and yeast Pbn1p are the essential components of glycosylphosphatidylinositol-mannosyltransferase I.

1 reference

12 December 2020

A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.

1 reference

12 December 2020

A map of human genome variation from population-scale sequencing

1 reference

12 December 2020

Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

1 reference

12 December 2020

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability

1 reference

12 December 2020

Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome

1 reference

12 December 2020

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation

1 reference

12 December 2020

1 reference

12 December 2020

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

1 reference

12 December 2020

10.1007/S10048-014-0408-Y

Identifiers

DOI

1 reference

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20 March 2020

1 reference