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Improving the Diagnosis of Cobalamin and Related Defects by Genomic Analysis, plus Functional and Structural Assessment of Novel Variants

AuthID
P-00P-2FV

Author(s)

Brasil, S

Leal, F

Vega, A

Navarrete, R

Jesus Ecay, MJ

Desviat, LR

Riera, C

Padilla, N

de la Cruz, X

Luz Couce, ML

[+4]·

Rigoldi, M

Specola, N

Tavares de Almeida, IT

Vives, I

Yahyaoui, R

Perez Cerda, C

Perez, B

Document Type

Article

Year published

2018

Published

in ORPHANET JOURNAL OF RARE DISEASES, ISSN: 1750-1172

Volume: 13, Issue: 1

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Publication Identifiers

DOI: 10.1186/s13023-018-0862-y

SCOPUS: 2-s2.0-85050856466

Wos: WOS:000439706000001

Source Identifiers

ISSN: 1750-1172

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All authors

Name Order	Name	Name Order	Name	Name Order	Name
1	Brasil, S;	2	Leal, F;	3	Vega, A;
4	Navarrete, R;	5	Jesus Ecay, MJ;	6	Desviat, LR;
7	Riera, C;	8	Padilla, N;	9	de la Cruz, X;
10	Luz Couce, ML;	11	Martin Hernandez, E;	12	Morais, A;
13	Pedron, C;	14	Pena Quintana, L;	15	Rigoldi, M;
16	Specola, N;	17	Tavares de Almeida, IT;	18	Vives, I;
19	Yahyaoui, R;	20	Rodriguez Pombo, P;	21	Ugarte, M;
22	Perez Cerda, C;	23	Merinero, B;	24	Perez, B;

Improving the Diagnosis of Cobalamin and Related Defects by Genomic Analysis, plus Functional and Structural Assessment of Novel Variants

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Improving the Diagnosis of Cobalamin and Related Defects by Genomic Analysis, plus Functional and Structural Assessment of Novel Variants

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