Varaico: Literature-Extracted Genetic Variants

Gene:DNM2
Variant:p.R522L
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DNM2

NM_001005361.3:p.R522L

Associated Papers

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

Torti E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30739909 (PubMed )
Supplement: NIHMS1579844-supplement-Supplementary_Table_2_UPDATED_JAN_2019.xlsx › Sheet2
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