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ASPARAGINE SYNTHETASE DEFICIENCY

Known as: ASNS DEFICIENCY, ASNSD 
National Institutes of Health

Related topics

Related topics

14 relations
ASNS, ARG550CYSASNS, PHE362VALAutosomal recessive inheritanceBlindness, Cortical

Papers overview

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2014
2014
Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay
Deficiency of Asparagine Synthetase (ASNSD, MIM 615574) is a very rare autosomal recessive disorder presenting with some brain… 
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