about
Babelomics 5.0: functional interpretation for new generations of genomic data.De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and DyskinesiasComplex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencingMyoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation
P50
description
investigador
@es
researcher
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name
Alba Sanchis-Juan
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type
label
Alba Sanchis-Juan
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prefLabel
Alba Sanchis-Juan
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P31
P496
0000-0003-2885-4692