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Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.

http://www.wikidata.org/entity/Q37696640

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Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations

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P2860

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.

http://www.wikidata.org/entity/Q37696640

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on December 2016

@en

vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

@cs

name

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.

@en

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.

@nl

type

label

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.

@en

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.

@nl

prefLabel

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.

@en

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.

@nl

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Birth Defects Research Part C: Embryo Today Reviews

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Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.

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Aline Zamboni Machado

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Amanda Narciso

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Bruno Ferraz-de-Souza

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Elaine Maria Frade Costa

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Frederico Moraes Ferreira

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Lin Lin

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Luciana Ribeiro Montenegro

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Nathalia Lisboa Gomes

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Rafaela Vieira Correa

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Rosana Barbosa Silva

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Creative Commons Attribution

P2860

A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

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Fast and accurate short read alignment with Burrows-Wheeler transform

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

Mutations in NR5A1 associated with ovarian insufficiency

MolProbity: all-atom contacts and structure validation for proteins and nucleic acids

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4

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Antonio M Lerario

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2016-12-01T00:00:00Z

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