Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD36
Variant:p.V545Splc
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ANKRD36

NM_001354587.1:p.V545Splc

Associated Papers

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_3

Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.

Yang L et al.

Bmc Medical Genetics, 2017

28724398 (PubMed )
Supplement: 12881_2017_418_MOESM6_ESM.xlsx › Final_1.xls
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