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- B46e79bd19aa4464420dbc9df91431389 source "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/" @default.
- B46e79bd19aa4464420dbc9df91431389 type Axiom @default.
- B46e79bd19aa4464420dbc9df91431389 annotatedProperty comment @default.
- B46e79bd19aa4464420dbc9df91431389 annotatedSource MONDO_0021018 @default.
- B46e79bd19aa4464420dbc9df91431389 annotatedTarget "Terminology note: Autosomal dominant LGMD mapped to 7q36 has been classified as LGMD1E in OMIM, but as LGMD1D in the Human Gene Nomenclature Committee Database. In the literature there is another LGMD1D/E erroneously mapped to 6q, but we will use the acronym LGMD1D for the 7q-disease and LGMD1E for the 6q-form. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3" @default.