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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CACNA1S

Variant:p.Q1265_A1266Splc

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CACNA1S

NM_000069.3:p.Q1265_A1266Splc

hg38:chr1:201053428 G>A

Associated Papers

Expanding the mutational spectrum of congenital microcephaly in Pakistani families.

Farooq S et al.

Frontiers in Genetics, 2025

41555927 (PubMed )

Supplement: Table1.xlsx › Family_4_ASPM

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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."