Varaico: Literature-Extracted Genetic Variants

Gene:AP4B1
Variant:p.S323L
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AP4B1

NM_001253852.3:p.S323L

Associated Papers

Identification of potential causal variants for premature ovarian failure by whole exome sequencing.

Jin H et al.

Bmc Medical Genomics, 2020

33109206 (PubMed )
Supplement: 12920_2020_813_MOESM1_ESM.xlsx › Table_S4

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.

Tong W et al.

Scientific Reports, 2018

29581464 (PubMed )
Supplement: 41598_2018_23503_MOESM1_ESM.xls › P4
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