WebApr 1, 2024 · The majority of probands were 2 to 6 months old at death (average, 6.0 ± 10.9 months; range, 1 day to 11 years) and male (57%). Comparable numbers were found prone (42%) and supine (40%) position at death. Death was associated with a … http://www.umd.be/MSH6/4DACTION/DMD_EX1/5
Genetically confirmed limb-girdle muscular dystrophy …
WebDNA change (cDNA): description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified … http://www.umd.be/DYSF/W_DYSF/images/RecurrentMutations.pdf diamond cliff resort patong
Human Gene DYSF (ENST00000258104.8) from GENCODE V41
WebAug 1, 2012 · variants, c.1304T>C (p.Leu435Pro) and c.1754T>C (p.Leu585Pro), were shown to be MMR deficient. The role of one of the most frequently reported MMR gene VUS, MSH2 c.380A>G WebThe role of one of the most frequently reported MMR gene VUS, MSH2 c.380A>G (p.Asn127Ser), is especially interesting because its concomitant defect with another variant could WebEffect: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the ... diamond clinic hcm