Top 14+ F9 C.316g A hay nhất
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1.NM_000133.3(F9):c.316G>A (p.Gly106Ser) AND Multiple Conditions
12 thg 4, 2021 · NM_000133.3(F9):c.316G>A (p.Gly106Ser). Gene: F9:coagulation factor IX [Gene - OMIM - HGNC]; Variant type: single ...
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2.NM_000133.3(F9):c.316G>A (p.Gly106Ser) AND Hereditary Factor ...
6 thg 10, 2020 · NM_000133.3(F9):c.316G>A (p.Gly106Ser). Gene: F9:coagulation factor IX [Gene - OMIM - HGNC]; Variant type: single ...
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3.List Of Variants In Gene F9 Studied For Hemophilia B - ClinVar Miner
List of variants in gene F9 studied for hemophilia B ; NM_000133.4(F9):c.1009G>C (p.Ala337Pro), rs137852253 ; NM_000133.4(F9):c.1024A>G (p.Thr342Ala) ...
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4.In Depth Mutation Analysis: C.316G>C (p.Gly106Arg) - Factor IX ...
Factor IX Gene (F9) · Variant Database · In Depth Mutation Analysis: c.316G>C (p.Gly106Arg).
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5.[XLS] CHBMP US Database - CDC
6, CHBMP US Database, List of mutations of the factor IX gene (F9) reported to cause hemophilia B in U.S. ... 35, c.316G>A, 10430G>A, g.138623273G>A, p.
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6.Mutation Analysis Of A Cohort Of US Patients With ... - CDC Stacks
3 thg 3, 2014 · Point mutations were distributed throughout the F9 gene and were found in ... 24 were recurrent in the population, and 3 of them (c.316G>A,
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7.Mutation Analysis Of A Cohort Of US Patients ... - Wiley Online Library
4 thg 12, 2013 · ... the F9 gene and were found in 86% of the patients. Of these mutations, 24 were recurrent in the population, and 3 of them (c.316G>A, ...
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8.Mutation Analysis Of A Cohort Of US Patients With Hemophilia B - Li
4 thg 12, 2013 · Point mutations were distributed throughout the F9 gene and were ... Three of them, c.316G>A, c.1025C>T, and c.1328T>C, were present in 26, ...
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9.Noninvasive Detection Of F8 Int22h-related Inversions And Sequence ...
20 thg 7, 2017 · 10A, F9, c.316G>A (p.Gly106Ser), 8, 56 146, 150, 112, 0.8, NA, NA, Unclassified, Affected. 10B, 23, 59 716, 193, 156, 10.0, 2, 165, Affected.
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10.Genotype-Phenotype Heterogeneity In Haemophilia - IntechOpen
10 thg 4, 2019 · Tables 4 and 5 depict F8 and F9 mutations, respectively, reported with phenotypic plasticity [49, 50]. A total of 351 mutations are presented ...
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11.Low Frequency Of Treatable Pediatric Disease Alleles In GnomAD
hemophilia A. F9 c.316G>A (GenBank: NM_000133.3). (p.Gly106Ser). 3 hemophilia B. GAA c.À32À13T>G (GenBank: NM_001079803. 1). 1 glycogen storage disease II.
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12.Splicing Dysregulation Contributes To The Pathogenicity Of Several F9 ...
10 thg 6, 2019 · onymous variants: c.278A>G, c.316G>A, c.365G>T, and. c.373G>A in comparison with wild‐type exon 4 sequence. In. TABLE 3 Classification of F9 ...
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13.[PDF] Splicing Dysregulation Contributes To The Pathogenicity Of Several ...
Disease-associated exonic single-nucleotide variants in F9 gene were obtained from databases ... onymous variants: c.278A>G, c.316G>A, c.365G>T, and.
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14.Factor IX Gene (F9) Variant Database
Variant ID: 198, cDNA Change, c.316G>T. Amino Acid Change, p.(Gly106Cys) (Legacy AA No. 60). Type, Point. Effect, Missense. Domain, EGF1. Location, Exon( 4).
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