Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC7
Variant:p.H127R
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DNAJC7

NM_003315.4:p.H127R

Associated Papers

Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing.

Theuriet J et al.

European Journal of Human Genetics : Ejhg, 2024

37337091 (PubMed )
Supplement: 41431_2023_1407_MOESM1_ESM.pdf
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