Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy

समान संसाधन

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  प्रकाशित: (2020)
• Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy
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  प्रकाशित: (2019)
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  द्वारा: Van Bergen, Nicole J, और अन्य
  प्रकाशित: (2020)
• Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis
  द्वारा: Pehlivan, Davut, और अन्य
  प्रकाशित: (2015)