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Exome sequencing reveals three homozygous missense variants in SNRPA in two sisters with syndromic intellectual disability.

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Description scientific article published on 13 February 2018
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author: Rocio Ortiz-Lopez  Kame A Galán-Huerta  Augusto Rojas-Martinez  Carlos Córdova-Fletes 

Publication date March 9, 2018
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