A New Variant (c.1A>G) In LDLRAP1 Causing Autosomal Recessive ...

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• NM_000152.5(GAA):c.1A>G (p.Met1Val) AND Glycogen ... - NCBI

• ClinVar Genomic Variation As It Relates To Human Health - NCBI

• Germline C.1A>C Heterozygous Pathogenic Variant In SDHA ...

• Lynch Syndrome Mutation Spectrum In New South Wales, Australia ...

• Compound Heterozygosity For Two MSH2 Mutations Suggests Mild ...

• Submissions For Variant NM_000251.3(MSH2):c.1A>G (p.Met1Val ...

• Submissions For Variant NM_000535.7(PMS2):c.1A>G (p.Met1Val ...

• The PHF6 Mutation C.1A>G; PM1V Causes Börjeson-Forsman ...

• Mutation Details For C.1A>G - Cystic Fibrosis Mutation Database

• Mutation Overview Page HIST1H4L - P.M1_?4 ( Frameshift) - COSMIC

• Epidermolysis Bullosa Simplex Due To KLHL24 (c.1A>G, P.1Met ...

• Article - Cell Press

• Clinical Genome Resources - Evidence Repository