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Bscl2 “773c t”

WebList of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported as uncertain significance for anterior horn disorder Included ClinVar conditions (136): Adult-onset … WebNM_182919.4(TICAM1):c.773C>T (p.Ser258Leu) AND Herpes simplex encephalitis, susceptibility to, 4 Clinical significance: Uncertain significance (Last evaluated: Sep 29, 2024) Review status: 1 star out of maximum of 4 stars

VCV000554197.7 - ClinVar - NCBI

WebVariants in KIF1A were identified in different forms of neurodegenerative diseases. Here, we generated induced pluripotent stem cells (iPSCs) from a Chinese hereditary spastic paraplegia (HSP) patient carrying a compound heterozygous c.773C>T(p.T258M) mutation in KIF1A gene by reprogramming peripheral blood cells with non-integrative vectors. Webrepository.ubn.ru.nl civil war casualties by race https://xavierfarre.com

NM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu) AND …

WebFeb 13, 2024 · Description: single nucleotide variant Variant details Conditions Gene (s) Help NM_054012.4 (ASS1):c.773C>T (p.Ala258Val) Allele ID 545221 Variant type single nucleotide variant Variant length 1 bp Cytogenetic location 9q34.11 Genomic location 9: 130479800 (GRCh38) GRCh38 UCSC 9: 133355187 (GRCh37) GRCh37 UCSC HGVS … WebNM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu) AND Charcot-Marie-Tooth disease type 2 Clinical significance: Uncertain significance (Last evaluated: Dec 2, 2024) Review status: dove soap bar microwave

NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) AND ALG1 …

Category:Lab resource: Stem Cell Line - ScienceDirect

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Bscl2 “773c t”

NM_006070.6(TFG):c.773C>T (p.Pro258Leu) AND multiple conditions

WebSANTA CRUZ BIOTECHNOLOGY, INC. Bcl-2 (C-2): sc-7382 Santa Cruz Biotechnology, Inc. 1.800.457.3801 831.457.3800 fax 831.457.3801 Europe +00800 4573 8000 49 6221 … WebUniProtKB/Swiss-Prot: 73 A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable.

Bscl2 “773c t”

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WebThe .gov means it's official. Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you're on a federal government site. Web3BCLSC02-W, manufactured by LED LAMPS and distributed by Worldway Electronics. It's category belong to Electronic Components ICs. It is applied to many fields, like …

WebThis sequence change replaces proline with leucine at codon 194 of the BSCL2 protein (p.Pro194Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs769219167, ExAC 0.01%). WebJun 15, 2024 · NM_004321.7(KIF1A):c.773C>T (p.Thr258Met) AND Spastic paraplegia 30, autosomal recessive Clinical significance: Pathogenic (Last evaluated: Jun 15, 2024) Review status: 1 star out of maximum of 4 stars

WebClinVar archives and aggregates information about relationships among variation and human health. WebClinVar archives and aggregates information about relationships among variation and human health.

WebList of variants in gene BSCL2, HNRNPUL2-BSCL2 studied for Charcot-Marie-Tooth disease type 2 Minimum submission review status: ★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline

WebThe phenotype was severe, with neurologic impairment in all patients and dysmorphic features in 4. In a patient with CDG Ik and nephrotic syndrome, Harshman et al. (2016) identified homozygosity for the previously identified S258L mutation in the ALG1 gene ( 605907.0001 ). The mutation was found by whole-exome sequencing and confirmed by … dovesnestinghatchlingsWebList of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported by Invitae Minimum submission review status: ★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline civil war cavalry reenactorWebList of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported as uncertain significance by Invitae Minimum submission review status: ★☆☆☆ criteria provided … civil war cavalry sgt trousers