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Homo sapiens Phenotype or Genotype

Identifiers: SRA: SRP345279
BioProject: PRJNA776081
Study Type: 
Other
Abstract: To study the genotype-phenotype correlation in cases of albinism associated with Intellectual Disability. RP1 gene variant found in our project, p.Gln1546Ter. This has been deposited by authors in ClinVar under accession number VCV001315572.1. The detailed sanger validated sequences are deposited in GeneBank under the following accession ID. BankIt2515543 AI1_F OL351360 BankIt2515543 AII1_F OL351361 BankIt2515543 AII2_F OL351362 BankIt2515543 AIII1_F OL351363 BankIt2515543 AIII2_F OL351364 BankIt2515543 AIII3_F OL351365 The TYR gene Exon 3 deletion was identified through NGS and further being confirmed by MLPA, the variant details are deposited in ClinVar under accession number VCV000992661.1
Center Project: Homo sapiens
External Link: /pubmed:34980106

Related SRA data

Experiments:
1 ( 1 samples )
Runs:
1 (6.6Gbp; 2.6Gb)
Additional objects:
File type count
fastq 2