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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DOK7

Variant:p.A310_M311delFs

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DOK7

NM_173660.5:p.A310_M311delFs

hg38:chr4:3492915 CCATG>C

Associated Papers

Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.

Mishra S et al.

Clinical Dysmorphology, 2023

37646703 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."