Missense variant trang 1 tải miễn phí từ tailieunhanh

"Missense variant" trang 1 - tải miễn phí từ tailieunhanh

Evaluating the use of paralogous protein domains to increase data availability for missense variant classification

Evaluating the use of paralogous protein domains to increase data availability for missense variant classification

12 13 1

Variant effect predictions capture some aspects of deep mutational scanning experiments

Variant effect predictions capture some aspects of deep mutational scanning experiments

12 41 1

A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: A case report

A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: A case report

8 29 1

A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: A case report

A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: A case report

7 11 1

Báo cáo y học: "Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia"

7 34 0

Báo cáo khoa hoc:

Báo cáo khoa hoc:" TOPBP1 missense variant Arg309Cys and breast cancer in a German hospital-based case-control study"

4 78 0

A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1

A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1

6 90 0

Recurrent miscalling of missense variation from short-read genome sequence data

Recurrent miscalling of missense variation from short-read genome sequence data

9 42 1

DSP missense variant in a Scottish Highland calf with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects

DSP missense variant in a Scottish Highland calf with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects

9 21 1

Homozygous missense variant F12 (Gly506Asp) associated with severe factor XII deficiency: A case report

Homozygous missense variant F12 (Gly506Asp) associated with severe factor XII deficiency: A case report

4 9 1