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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DNAH14

Variant:p.V548M

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DNAH14

NM_001367479.1:p.V548M

hg38:chr1:225042988 G>A

Associated Papers

AHDC1 missense mutations in Xia-Gibbs syndrome.

Khayat MM et al.

Hgg Advances, 2021

34950897 (PubMed )

Supplement: mmc2.pdf

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