Varaico: Literature-Extracted Genetic Variants

Gene:DDHD2
Variant:p.V101_Y102del2
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DDHD2

NM_015214.3:p.V101_Y102del2

Associated Papers

Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.

Pennings M et al.

European Journal of Human Genetics : Ejhg, 2023

36781956 (PubMed )
Supplement: 41431_2023_1312_MOESM4_ESM.pdf
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