Varaico: Literature-Extracted Genetic Variants

Gene:SPDL1
Variant:p.S575_C583del0
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SPDL1

NM_017785.5:p.S575_C583del0

Associated Papers

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1

Genomic and phenotypic delineation of congenital microcephaly.

Shaheen R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30214071 (PubMed )
Supplement: NIHMS1061370-supplement-1061370_Sup_MOESM2.xlsx › Sheet1

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Alazami AM et al.

Cell Reports, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."