POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease (Q24676293)

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Language	Label	Description	Also known as
English	POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease	scientific article

Statements

instance of

scholarly article

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title

POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease (English)

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main subject

brain

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muscle-eye-brain disease

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based on heuristic

inferred from title

author

Leena Valanne

object named as

L Valanne

series ordinal

8

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Bru Cormand

object named as

B Cormand

series ordinal

5

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William B. Dobyns

series ordinal

6

object named as

W B Dobyns

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author name string

C Diesen

series ordinal

1

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A Saarinen

series ordinal

2

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H Pihko

series ordinal

3

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C Rosenlew

series ordinal

4

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J Dieguez

series ordinal

7

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T Joensuu

series ordinal

9

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A-E Lehesjoki

series ordinal

10

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language of work or name

English

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publication date

October 2004

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published in

Journal of Medical Genetics

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volume

41

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issue

10

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page(s)

e115

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Identifiers

DOI

10.1136/JMG.2004.020701

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PMC publication ID

1735594

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PubMed publication ID

15466003

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ResearchGate publication ID

8249664

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